Variant report

Variant	esv3432040
Chromosome Location	chr16:30545881-30569546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1871)
CpG islands
(count:1224)
Chromatin interactive
region (count:118)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1871 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30547104-30547218	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:30545875-30546478	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:30569541-30570192	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:30552529-30552681	K562	blood:	n/a	n/a
5	ARID3A	chr16:30560734-30560974	K562	blood:	n/a	n/a
6	ARID3A	chr16:30546174-30546647	K562	blood:	n/a	n/a
7	ARID3A	chr16:30553358-30553489	K562	blood:	n/a	n/a
8	ARID3A	chr16:30547103-30547385	K562	blood:	n/a	n/a
9	ATF1	chr16:30547015-30547445	K562	blood:	n/a	n/a
10	ATF1	chr16:30553334-30553540	K562	blood:	n/a	n/a
11	ATF1	chr16:30552617-30552654	K562	blood:	n/a	n/a
12	ATF2	chr16:30569498-30570017	GM12878	blood:	n/a	n/a
13	ATF2	chr16:30546791-30547675	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr16:30546094-30546961	GM12878	blood:	n/a	n/a
15	ATF2	chr16:30546173-30546555	GM12878	blood:	n/a	n/a
16	ATF2	chr16:30546979-30547452	GM12878	blood:	n/a	n/a
17	ATF2	chr16:30546053-30546552	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr16:30569383-30570261	GM12878	blood:	n/a	n/a
19	ATF2	chr16:30547057-30547483	GM12878	blood:	n/a	n/a
20	ATF3	chr16:30560639-30560998	K562	blood:	n/a	n/a
21	ATF3	chr16:30546174-30546540	K562	blood:	n/a	chr16:30546242-30546251
22	ATF3	chr16:30546110-30546628	A549	lung:	n/a	chr16:30546242-30546251
23	ATF3	chr16:30545866-30546444	K562	blood:	n/a	chr16:30546242-30546251
24	ATF3	chr16:30545950-30546561	A549	lung:	n/a	chr16:30546242-30546251
25	ATF3	chr16:30547032-30547497	K562	blood:	n/a	n/a
26	ATF3	chr16:30560755-30560970	K562	blood:	n/a	n/a
27	BACH1	chr16:30545710-30546616	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr16:30546935-30547089	K562	blood:	n/a	n/a
29	BACH1	chr16:30551079-30551211	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr16:30569217-30570029	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr16:30550975-30551229	K562	blood:	n/a	n/a
32	BCL3	chr16:30569493-30569991	A549	lung:	n/a	chr16:30569719-30569728
33	BCL3	chr16:30545931-30546685	A549	lung:	n/a	chr16:30546242-30546255
34	BCL3	chr16:30546046-30546865	A549	lung:	n/a	chr16:30546242-30546255
35	BCLAF1	chr16:30545860-30547508	GM12878	blood:	n/a	chr16:30546242-30546255
36	BCLAF1	chr16:30569349-30570162	GM12878	blood:	n/a	chr16:30569719-30569728
37	BCLAF1	chr16:30545872-30547492	GM12878	blood:	n/a	chr16:30546242-30546255
38	BHLHE40	chr16:30547020-30547518	GM12878	blood:	n/a	n/a
39	BHLHE40	chr16:30550827-30550933	K562	blood:	n/a	n/a
40	BHLHE40	chr16:30560222-30560407	K562	blood:	n/a	n/a
41	BHLHE40	chr16:30546024-30546500	HepG2	liver:	n/a	n/a
42	BHLHE40	chr16:30552468-30552758	K562	blood:	n/a	n/a
43	BHLHE40	chr16:30565281-30565343	K562	blood:	n/a	n/a
44	BHLHE40	chr16:30560862-30560870	HepG2	liver:	n/a	n/a
45	BHLHE40	chr16:30560614-30561052	K562	blood:	n/a	n/a
46	BHLHE40	chr16:30545994-30547528	K562	blood:	n/a	n/a
47	BHLHE40	chr16:30569497-30570008	HepG2	liver:	n/a	n/a
48	BHLHE40	chr16:30545966-30546810	GM12878	blood:	n/a	n/a
49	BHLHE40	chr16:30569517-30570029	GM12878	blood:	n/a	n/a
50	BRCA1	chr16:30569515-30570199	HepG2	liver:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30546310-30546360	HepG2	liver:	n/a
2	chr16:30569043-30569093	HEEpiC	esophagus:	n/a
3	chr16:30569314-30569364	MCF10A-Er-Src	breast:	n/a
4	chr16:30567105-30567155	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:30546310-30546360	HepG2	liver:	n/a
6	chr16:30569043-30569093	HEEpiC	esophagus:	n/a
7	chr16:30569314-30569364	MCF10A-Er-Src	breast:	n/a
8	chr16:30567105-30567155	HPAEpiC	pulmonary alveolar:	n/a
9	chr16:30546404-30546454	HUVEC	blood vessel:	n/a
10	chr16:30546188-30546238	HCT-116	colon:	n/a
11	chr16:30566945-30566995	SKMC	muscle:	n/a
12	chr16:30569314-30569364	AG09319	gingival:	n/a
13	chr16:30550239-30550289	Hela-S3	cervix:	n/a
14	chr16:30569314-30569364	GM06990	blood:	n/a
15	chr16:30550239-30550289	NHDF-neo	bronchial:	n/a
16	chr16:30569419-30569469	HRPEpiC	eye:	n/a
17	chr16:30553698-30553748	BJ	skin:	n/a
18	chr16:30550239-30550289	AoSMC	blood vessel:	n/a
19	chr16:30569043-30569093	LNCaP	prostate:	n/a
20	chr16:30569308-30569358	LNCaP	prostate:	n/a
21	chr16:30569308-30569358	BJ	skin:	n/a
22	chr16:30569043-30569093	HIPEpiC	eye:	n/a
23	chr16:30545962-30546012	HRE	kidney:	n/a
24	chr16:30565391-30565441	ECC-1	luminal epithelium:	n/a
25	chr16:30567105-30567155	PrEC	prostate:	n/a
26	chr16:30563514-30563564	IMR90	lung:	fetal
27	chr16:30563514-30563564	AG04450	lung:	fetal
28	chr16:30566484-30566534	MCF-7	breast:	n/a
29	chr16:30566945-30566995	H1-hESC	embryonic stem cell:	embryo
30	chr16:30559987-30560037	T-47D	breast:	n/a
31	chr16:30566640-30566690	HepG2	liver:	n/a
32	chr16:30546404-30546454	HL-60	blood:	n/a
33	chr16:30566640-30566690	HUVEC	blood vessel:	n/a
34	chr16:30569043-30569093	HRE	kidney:	n/a
35	chr16:30563514-30563564	HNPCEpiC	eye:	n/a
36	chr16:30559987-30560037	H1-hESC	embryonic stem cell:	embryo
37	chr16:30565391-30565441	SK-N-SH	brain:	n/a
38	chr16:30546190-30546240	PrEC	prostate:	n/a
39	chr16:30569308-30569358	GM12878	blood:	n/a
40	chr16:30563514-30563564	SK-N-MC	brain:	n/a
41	chr16:30545962-30546012	PANC-1	pancreas:	n/a
42	chr16:30569043-30569093	GM12891	blood:	n/a
43	chr16:30546310-30546360	NH-A	brain:	n/a
44	chr16:30545962-30546012	A549	lung:	n/a
45	chr16:30569314-30569364	GM12891	blood:	n/a
46	chr16:30545962-30546012	HIPEpiC	eye:	n/a
47	chr16:30546565-30546615	AG10803	skin:	n/a
48	chr16:30546188-30546238	ovcar-3	ovarian:	n/a
49	chr16:30546310-30546360	SAEC	small airway:	n/a
50	chr16:30567019-30567069	H1-hESC	embryonic stem cell:	embryo

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:
2	chr16:30537497..30540018-chr16:30551434..30553057,2	K562	blood:
3	chr16:30555913..30558805-chr16:30639399..30642318,2	K562	blood:
4	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
5	chr16:30455450..30458862-chr16:30569304..30572069,4	K562	blood:
6	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
7	chr16:30568530..30574160-chr16:30594464..30599047,9	MCF-7	breast:
8	chr16:30545157..30547413-chr16:30708234..30710909,2	K562	blood:
9	chr16:30545060..30546594-chr16:30668041..30670734,2	K562	blood:
10	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
11	chr16:30554415..30557647-chr16:30560769..30563401,3	K562	blood:
12	chr1:149857820..149858393-chr16:30545109..30545891,2	Hela-S3	cervix:
13	chr16:30553506..30556409-chr16:30563920..30565827,2	MCF-7	breast:
14	chr16:30545890..30546725-chr16:30596237..30597056,2	MCF-7	breast:
15	chr16:30560063..30566215-chr16:30567475..30571582,8	MCF-7	breast:
16	chr16:30567563..30571772-chr16:30581766..30584287,7	MCF-7	breast:
17	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
18	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
19	chr16:30568317..30569901-chr16:30597134..30598772,2	MCF-7	breast:
20	chr16:30557356..30560431-chr16:30574785..30578113,3	MCF-7	breast:
21	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
22	chr16:30549147..30550840-chr16:30563240..30565616,2	MCF-7	breast:
23	chr16:30563954..30565557-chr16:30582718..30585248,2	MCF-7	breast:
24	chr16:30440234..30443993-chr16:30568188..30571380,4	MCF-7	breast:
25	chr16:30546066..30548925-chr16:30553329..30556286,3	K562	blood:
26	chr16:30552999..30555386-chr16:30556261..30558941,2	K562	blood:
27	chr16:30553044..30556039-chr16:30597084..30599029,2	MCF-7	breast:
28	chr16:30536717..30540030-chr16:30566020..30569997,3	K562	blood:
29	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
30	chr16:30566138..30571776-chr16:30580042..30586389,14	K562	blood:
31	chr16:30568302..30571284-chr16:30621692..30624575,2	MCF-7	breast:
32	chr16:30559185..30561060-chr16:30581523..30583226,2	MCF-7	breast:
33	chr16:30558245..30560861-chr16:30561639..30563258,2	K562	blood:
34	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
35	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
36	chr16:30544429..30547089-chr16:30565113..30567542,2	K562	blood:
37	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
38	chr16:30553343..30557401-chr16:30564717..30567278,3	K562	blood:
39	chr16:30545877..30546777-chr16:30569372..30569939,2	MCF-7	breast:
40	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
41	chr16:30554253..30555888-chr16:30580934..30582636,2	K562	blood:
42	chr16:30569328..30570273-chr16:30583071..30583783,3	MCF-7	breast:
43	chr16:30567024..30569194-chr16:30668313..30670444,2	MCF-7	breast:
44	chr16:30567520..30571513-chr16:30580042..30586732,13	K562	blood:
45	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
46	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
47	chr16:30552999..30555386-chr16:30556261..30558941,2	K562	blood:
48	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
49	chr16:30455325..30458520-chr16:30567890..30569643,3	MCF-7	breast:
50	chr16:30568081..30571222-chr16:30660229..30663794,5	K562	blood:

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

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

No data

Variant related genes	Relation type
ZNF764	TF binding region
ENSG00000261459	TF binding region
ENSG00000260494	TF binding region
ZNF747	TF binding region
ENSG00000235560	TF binding region
ZNF764	CpG island
ENSG00000261459	CpG island
ENSG00000260494	CpG island
ZNF747	CpG island
ENSG00000235560	CpG island
ENSG00000149929	chromatin interactions
ENSG00000260869	chromatin interactions
ENSG00000169592	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000260494	chromatin interactions
ENSG00000197930	chromatin interactions
ENSG00000169955	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000156853	chromatin interactions
ENSG00000228486	chromatin interactions
ENSG00000266305	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000261459	chromatin interactions
ENSG00000169951	chromatin interactions
ENSG00000235560	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000197162	chromatin interactions
ENSG00000260167	chromatin interactions
ENSG00000107362	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000179151	chromatin interactions
ENSG00000261588	chromatin interactions
ENSG00000005844	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000179918	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000180096	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000179958	chromatin interactions
ENSG00000239791	chromatin interactions
ENSG00000229809	chromatin interactions
ZMYM2	miRNA target sites
ERO1L	miRNA target sites

Extended variants
information (count: 869 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372705822	chr16:30545888-30545889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs200157373	chr16:30545895-30545896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs34097090	chr16:30545917-30545918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs35512295	chr16:30545919-30545920	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575337527	chr16:30545949-30545950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs572477423	chr16:30546100-30546101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
7	rs370432257	chr16:30546174-30546175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
8	rs117860890	chr16:30546185-30546186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
9	rs560967610	chr16:30546186-30546187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
10	rs528063975	chr16:30546199-30546200	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
11	rs75823168	chr16:30546213-30546214	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
12	rs565136977	chr16:30546254-30546255	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
13	rs532352863	chr16:30546265-30546266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
14	rs550800634	chr16:30546266-30546267	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
15	rs568952232	chr16:30546296-30546297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
16	rs567379605	chr16:30546301-30546302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
17	rs191583104	chr16:30546307-30546308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
18	rs548363102	chr16:30546347-30546348	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
19	rs150546746	chr16:30546362-30546363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
20	rs575072135	chr16:30546378-30546379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
21	rs533890355	chr16:30546399-30546400	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
22	rs184754089	chr16:30546405-30546406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
23	rs6565191	chr16:30546488-30546489	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs538844737	chr16:30546509-30546510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
25	rs373642680	chr16:30546527-30546528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
26	rs538147757	chr16:30546532-30546533	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
27	rs139514878	chr16:30546564-30546565	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
28	rs574914655	chr16:30546664-30546665	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
29	rs542729778	chr16:30546746-30546747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
30	rs188382347	chr16:30546768-30546769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
31	rs192872565	chr16:30546772-30546773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
32	rs572620315	chr16:30546782-30546783	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
33	rs143197238	chr16:30546831-30546832	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs536260584	chr16:30546908-30546909	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs146187122	chr16:30546960-30546961	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs376149030	chr16:30546974-30546975	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs62056327	chr16:30546980-30546981	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs139062874	chr16:30547015-30547016	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs544165495	chr16:30547020-30547021	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs554500821	chr16:30547034-30547035	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs562722857	chr16:30547086-30547087	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs529813812	chr16:30547093-30547094	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs371063022	chr16:30547102-30547103	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs548670091	chr16:30547127-30547128	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs566577462	chr16:30547130-30547131	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs527775248	chr16:30547150-30547151	Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
47	rs552192168	chr16:30547219-30547220	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs576130741	chr16:30547284-30547285	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
49	rs185146702	chr16:30547322-30547323	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
50	rs144151548	chr16:30547388-30547389	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	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:1572 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544400-30546200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr16:30544600-30546400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:30544600-30546400	Active TSS	Osteobl	bone
4	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:30544800-30546600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr16:30544800-30546800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:30544800-30547400	Active TSS	Gastric	stomach
11	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
13	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:30545000-30546000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:30545000-30546000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:30545000-30546000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:30545000-30546200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:30545000-30546200	Flanking Active TSS	HMEC	breast
20	chr16:30545000-30546600	Bivalent/Poised TSS	HepG2	liver
21	chr16:30545000-30546800	Active TSS	Duodenum Mucosa	Duodenum
22	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
25	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
26	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
27	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:30545200-30546000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:30545200-30546000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr16:30545200-30546200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:30545200-30546200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:30545200-30546200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr16:30545200-30546200	Flanking Active TSS	Placenta	Placenta
34	chr16:30545200-30546600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:30545200-30546600	Active TSS	A549	lung
36	chr16:30545200-30546800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:30545200-30546800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:30545200-30547200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr16:30545200-30547200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr16:30545200-30547200	Active TSS	Aorta	Aorta
41	chr16:30545200-30547200	Active TSS	Ovary	ovary
42	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
44	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
45	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
46	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
47	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
48	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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