Variant report

Variant	esv3390311
Chromosome Location	chr16:30544451-30567432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1389)
CpG islands
(count:1102)
Chromatin interactive
region (count:99)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1389 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30560734-30560974	K562	blood:	n/a	n/a
2	ARID3A	chr16:30553358-30553489	K562	blood:	n/a	n/a
3	ARID3A	chr16:30545875-30546478	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:30547104-30547218	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:30547103-30547385	K562	blood:	n/a	n/a
6	ARID3A	chr16:30552529-30552681	K562	blood:	n/a	n/a
7	ARID3A	chr16:30546174-30546647	K562	blood:	n/a	n/a
8	ATF1	chr16:30547015-30547445	K562	blood:	n/a	n/a
9	ATF1	chr16:30553334-30553540	K562	blood:	n/a	n/a
10	ATF1	chr16:30552617-30552654	K562	blood:	n/a	n/a
11	ATF2	chr16:30547057-30547483	GM12878	blood:	n/a	n/a
12	ATF2	chr16:30546791-30547675	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr16:30546979-30547452	GM12878	blood:	n/a	n/a
14	ATF2	chr16:30546094-30546961	GM12878	blood:	n/a	n/a
15	ATF2	chr16:30546053-30546552	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr16:30546173-30546555	GM12878	blood:	n/a	n/a
17	ATF3	chr16:30545866-30546444	K562	blood:	n/a	chr16:30546242-30546251
18	ATF3	chr16:30560755-30560970	K562	blood:	n/a	n/a
19	ATF3	chr16:30546110-30546628	A549	lung:	n/a	chr16:30546242-30546251
20	ATF3	chr16:30560639-30560998	K562	blood:	n/a	n/a
21	ATF3	chr16:30547032-30547497	K562	blood:	n/a	n/a
22	ATF3	chr16:30545950-30546561	A549	lung:	n/a	chr16:30546242-30546251
23	ATF3	chr16:30546174-30546540	K562	blood:	n/a	chr16:30546242-30546251
24	BACH1	chr16:30546935-30547089	K562	blood:	n/a	n/a
25	BACH1	chr16:30550975-30551229	K562	blood:	n/a	n/a
26	BACH1	chr16:30545710-30546616	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr16:30551079-30551211	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr16:30545931-30546685	A549	lung:	n/a	chr16:30546242-30546255
29	BCL3	chr16:30546046-30546865	A549	lung:	n/a	chr16:30546242-30546255
30	BCLAF1	chr16:30545860-30547508	GM12878	blood:	n/a	chr16:30546242-30546255
31	BCLAF1	chr16:30545872-30547492	GM12878	blood:	n/a	chr16:30546242-30546255
32	BHLHE40	chr16:30552468-30552758	K562	blood:	n/a	n/a
33	BHLHE40	chr16:30547020-30547518	GM12878	blood:	n/a	n/a
34	BHLHE40	chr16:30546024-30546500	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:30565281-30565343	K562	blood:	n/a	n/a
36	BHLHE40	chr16:30560222-30560407	K562	blood:	n/a	n/a
37	BHLHE40	chr16:30545994-30547528	K562	blood:	n/a	n/a
38	BHLHE40	chr16:30560862-30560870	HepG2	liver:	n/a	n/a
39	BHLHE40	chr16:30560614-30561052	K562	blood:	n/a	n/a
40	BHLHE40	chr16:30550827-30550933	K562	blood:	n/a	n/a
41	BHLHE40	chr16:30545966-30546810	GM12878	blood:	n/a	n/a
42	BRCA1	chr16:30546385-30546560	HepG2	liver:	n/a	n/a
43	BRCA1	chr16:30545976-30546517	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr16:30547004-30547057	HepG2	liver:	n/a	n/a
45	BRCA1	chr16:30546940-30547290	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr16:30545392-30547589	K562	blood:	n/a	n/a
47	CCNT2	chr16:30547097-30547295	K562	blood:	n/a	n/a
48	CCNT2	chr16:30545799-30546552	K562	blood:	n/a	n/a
49	CCNT2	chr16:30552546-30552798	K562	blood:	n/a	n/a
50	CCNT2	chr16:30560893-30560899	K562	blood:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30545772-30545822	HRCEpiC	kidney:	n/a
2	chr16:30550239-30550289	PFSK-1	brain:	n/a
3	chr16:30550239-30550289	LNCaP	prostate:	n/a
4	chr16:30553698-30553748	H1-hESC	embryonic stem cell:	embryo
5	chr16:30545772-30545822	HRCEpiC	kidney:	n/a
6	chr16:30550239-30550289	PFSK-1	brain:	n/a
7	chr16:30550239-30550289	LNCaP	prostate:	n/a
8	chr16:30553698-30553748	H1-hESC	embryonic stem cell:	embryo
9	chr16:30567105-30567155	NH-A	brain:	n/a
10	chr16:30546190-30546240	T-47D	breast:	n/a
11	chr16:30567105-30567155	AG04449	skin:	fetal
12	chr16:30545507-30545557	Caco-2	colon:	n/a
13	chr16:30566945-30566995	Hepatocyte	liver:	n/a
14	chr16:30545772-30545822	T-47D	breast:	n/a
15	chr16:30550239-30550289	HRPEpiC	eye:	n/a
16	chr16:30566945-30566995	HAEpiC	amniotic membrane:	n/a
17	chr16:30545507-30545557	GM12892	blood:	n/a
18	chr16:30566484-30566534	ovcar-3	ovarian:	n/a
19	chr16:30550239-30550289	HIPEpiC	eye:	n/a
20	chr16:30559987-30560037	BE2_C	brain:	n/a
21	chr16:30545962-30546012	NHBE	bronchial:	n/a
22	chr16:30566945-30566995	NH-A	brain:	n/a
23	chr16:30546565-30546615	MCF-7	breast:	n/a
24	chr16:30546190-30546240	AG09319	gingival:	n/a
25	chr16:30559987-30560037	ovcar-3	ovarian:	n/a
26	chr16:30546188-30546238	HepG2	liver:	n/a
27	chr16:30546190-30546240	U87	brain:	n/a
28	chr16:30545772-30545822	HCM	heart:	n/a
29	chr16:30566484-30566534	NHDF-neo	bronchial:	n/a
30	chr16:30566484-30566534	GM19239	blood:	n/a
31	chr16:30546310-30546360	AG04449	skin:	fetal
32	chr16:30546188-30546238	U87	brain:	n/a
33	chr16:30566484-30566534	LNCaP	prostate:	n/a
34	chr16:30546404-30546454	HUVEC	blood vessel:	n/a
35	chr16:30546190-30546240	HUVEC	blood vessel:	n/a
36	chr16:30546190-30546240	NB4	blood:	n/a
37	chr16:30566945-30566995	SKMC	muscle:	n/a
38	chr16:30546188-30546238	HCT-116	colon:	n/a
39	chr16:30546310-30546360	T-47D	breast:	n/a
40	chr16:30545772-30545822	Jurkat	blood:	n/a
41	chr16:30546404-30546454	AG04449	skin:	fetal
42	chr16:30546310-30546360	ProgFib	skin:	n/a
43	chr16:30553698-30553748	SKMC	muscle:	n/a
44	chr16:30567019-30567069	GM06990	blood:	n/a
45	chr16:30546565-30546615	HMEC	breast:	n/a
46	chr16:30545772-30545822	PrEC	prostate:	n/a
47	chr16:30546188-30546238	CMK	blood:	n/a
48	chr16:30546190-30546240	HEEpiC	esophagus:	n/a
49	chr16:30546565-30546615	AG04450	lung:	fetal
50	chr16:30546404-30546454	NHDF-neo	bronchial:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
2	chr16:30567024..30569194-chr16:30668313..30670444,2	MCF-7	breast:
3	chr16:30455274..30457698-chr16:30553358..30556339,2	K562	blood:
4	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
5	chr16:30540585..30543471-chr16:30559364..30562219,2	K562	blood:
6	chr16:30555395..30557197-chr16:30569839..30572289,2	K562	blood:
7	chr15:74987753..74988712-chr16:30546350..30547141,2	Hela-S3	cervix:
8	chr16:30439506..30441564-chr16:30565127..30567602,2	MCF-7	breast:
9	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
10	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
11	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
12	chr16:30549457..30552107-chr16:30552436..30555820,3	K562	blood:
13	chr16:30546437..30548211-chr16:30553100..30554989,2	MCF-7	breast:
14	chr16:30553506..30556409-chr16:30563920..30565827,2	MCF-7	breast:
15	chr16:30565839..30567622-chr16:30662487..30664017,2	MCF-7	breast:
16	chr16:30542999..30545115-chr16:30620251..30622007,2	MCF-7	breast:
17	chr16:30536383..30540831-chr16:30551260..30554366,4	MCF-7	breast:
18	chr16:30544429..30547089-chr16:30565113..30567542,2	K562	blood:
19	chr16:30533019..30535927-chr16:30549702..30551377,2	MCF-7	breast:
20	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
21	chr16:30549147..30550840-chr16:30563240..30565616,2	MCF-7	breast:
22	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
23	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
24	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
25	chr16:30455596..30457419-chr16:30556631..30559220,2	MCF-7	breast:
26	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
27	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
28	chr16:30552999..30555386-chr16:30556261..30558941,2	K562	blood:
29	chr16:30440428..30442526-chr16:30544936..30546517,2	K562	blood:
30	chr1:73623181..73625541-chr16:30564814..30567773,2	MCF-7	breast:
31	chr16:30536780..30538285-chr16:30558665..30560677,2	MCF-7	breast:
32	chr16:30537497..30540018-chr16:30551434..30553057,2	K562	blood:
33	chr16:30553343..30556123-chr16:30564857..30567278,3	K562	blood:
34	chr16:30563954..30565557-chr16:30582718..30585248,2	MCF-7	breast:
35	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
36	chr16:30564268..30564883-chr6:153979585..153980484,2	MCF-7	breast:
37	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
38	chr16:30558245..30560861-chr16:30561639..30563258,2	K562	blood:
39	chr16:30564382..30566919-chr16:30582116..30584328,2	MCF-7	breast:
40	chr16:30553506..30556409-chr16:30563920..30565827,2	MCF-7	breast:
41	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
42	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:
43	chr16:30545329..30549144-chr16:30556356..30560472,4	K562	blood:
44	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
45	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
46	chr16:30552999..30555386-chr16:30556261..30558941,2	K562	blood:
47	chr16:30553343..30557401-chr16:30564717..30567278,3	K562	blood:
48	chr16:30554415..30557647-chr16:30560769..30563401,3	K562	blood:
49	chr16:30553103..30555783-chr16:30644118..30646761,2	MCF-7	breast:
50	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAL-2	chr16:30547750-30548465	ENSG00000235560
2	lnc-ITGAL-2	chr16:30546394-30546801	ENSG00000235560
3	lnc-ZNF747-1	chr16:30549081-30549552	NONHSAT141765
4	lnc-ITGAL-2	chr16:30546432-30546801	ENSG00000235560.3
5	lnc-ZNF747-1	chr16:30548523-30548773	NONHSAT141765
6	lnc-ITGAL-2	chr16:30547139-30547520	ENSG00000235560.3
7	lnc-ITGAL-2	chr16:30547750-30548465	ENSG00000235560.3
8	lnc-ITGAL-2	chr16:30546073-30546801	ENSG00000235560.3

No data

Variant related genes	Relation type
ENSG00000261459	TF binding region
ENSG00000260494	TF binding region
ZNF747	TF binding region
ENSG00000235560	TF binding region
ENSG00000261459	CpG island
ENSG00000260494	CpG island
ZNF747	CpG island
ENSG00000235560	CpG island
ENSG00000149925	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000260869	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000197162	chromatin interactions
ENSG00000156853	chromatin interactions
ENSG00000179151	chromatin interactions
ENSG00000261459	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000229809	chromatin interactions
ENSG00000107362	chromatin interactions
ENSG00000260494	chromatin interactions
ENSG00000169951	chromatin interactions
ENSG00000239791	chromatin interactions
ENSG00000179958	chromatin interactions
ENSG00000261588	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000149929	chromatin interactions
ENSG00000235560	chromatin interactions
ENSG00000169592	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000260167	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000197930	chromatin interactions
ENSG00000169955	chromatin interactions
ERO1L	miRNA target sites
ZMYM2	miRNA target sites

Extended variants
information (count: 836 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142751951	chr16:30544471-30544472	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs79391406	chr16:30544474-30544475	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs369751705	chr16:30544501-30544502	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs551010838	chr16:30544503-30544504	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs150221009	chr16:30544517-30544518	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs536971759	chr16:30544529-30544530	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs555605513	chr16:30544605-30544606	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs567364303	chr16:30544612-30544613	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs138792505	chr16:30544631-30544632	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs553505925	chr16:30544632-30544633	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs141592488	chr16:30544650-30544651	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs545509560	chr16:30544668-30544669	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs72483440	chr16:30544696-30544697	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs8054807	chr16:30544699-30544700	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147029954	chr16:30544730-30544731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs542973813	chr16:30544731-30544732	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs561595132	chr16:30544794-30544795	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs138581907	chr16:30544806-30544807	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs531656778	chr16:30544820-30544821	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs544009882	chr16:30544836-30544837	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs540382476	chr16:30544861-30544862	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs78245270	chr16:30544864-30544865	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs117841486	chr16:30544872-30544873	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs187554621	chr16:30544939-30544940	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs192427166	chr16:30544954-30544955	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs144376747	chr16:30544961-30544962	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs549016611	chr16:30544978-30544979	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs567506638	chr16:30545001-30545002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs11860431	chr16:30545011-30545012	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553243036	chr16:30545061-30545062	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs544579318	chr16:30545073-30545074	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs113843360	chr16:30545091-30545092	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs397856189	chr16:30545092-30545093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs77255026	chr16:30545145-30545146	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs8051383	chr16:30545215-30545216	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183379796	chr16:30545246-30545247	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs186630961	chr16:30545250-30545251	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs536610370	chr16:30545297-30545298	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs554970087	chr16:30545312-30545313	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs573530288	chr16:30545317-30545318	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs34974933	chr16:30545354-30545355	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs540517881	chr16:30545417-30545418	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs200078983	chr16:30545459-30545460	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs565162901	chr16:30545460-30545461	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs576994450	chr16:30545485-30545486	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs201446758	chr16:30545489-30545490	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs201383856	chr16:30545538-30545539	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs563353378	chr16:30545541-30545542	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs112801328	chr16:30545544-30545545	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs530426608	chr16:30545549-30545550	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:1492 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30539200-30545200	Weak transcription	HSMM	muscle
2	chr16:30539400-30544600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:30539400-30544600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:30539400-30544600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:30539400-30544600	Weak transcription	Ovary	ovary
6	chr16:30539400-30545000	Weak transcription	Fetal Brain Male	brain
7	chr16:30539400-30545000	Weak transcription	NH-A	brain
8	chr16:30539400-30545200	Weak transcription	Psoas Muscle	Psoas
9	chr16:30539400-30545200	Weak transcription	HSMMtube	muscle
10	chr16:30539600-30544600	Weak transcription	Brain Angular Gyrus	brain
11	chr16:30539600-30544600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:30539600-30544600	Weak transcription	Hela-S3	cervix
13	chr16:30539600-30544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:30539600-30544800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:30539600-30544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:30539600-30544800	Weak transcription	Fetal Kidney	kidney
17	chr16:30539600-30545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:30539600-30545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30539600-30545200	Weak transcription	A549	lung
20	chr16:30539600-30545200	Weak transcription	NHDF-Ad	bronchial
21	chr16:30540200-30544600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:30540600-30544600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr16:30540600-30544600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:30540600-30544600	Weak transcription	Right Atrium	heart
25	chr16:30540800-30544600	Weak transcription	NHEK	skin
26	chr16:30541600-30544600	Strong transcription	Thymus	Thymus
27	chr16:30541800-30544600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:30541800-30544600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:30541800-30544600	Strong transcription	Brain Anterior Caudate	brain
30	chr16:30541800-30544600	Strong transcription	Brain Hippocampus Middle	brain
31	chr16:30541800-30544600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:30541800-30544600	Strong transcription	Fetal Brain Female	brain
33	chr16:30541800-30544600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:30541800-30544800	Strong transcription	Brain Cingulate Gyrus	brain
35	chr16:30542000-30544600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:30542000-30544600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:30542000-30544600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:30542000-30544600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr16:30542200-30544600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:30542200-30544600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr16:30542200-30544600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr16:30542200-30544800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:30542200-30544800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr16:30542600-30544600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr16:30542600-30544600	Weak transcription	Fetal Lung	lung
46	chr16:30542600-30544600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr16:30542600-30544600	Weak transcription	K562	blood
48	chr16:30542800-30544600	Weak transcription	Brain Substantia Nigra	brain
49	chr16:30542800-30544600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr16:30542800-30544800	Strong transcription	NHLF	lung

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