Variant report

Variant	esv1819498
Chromosome Location	chr16:73079212-73092845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1486)
CpG islands
(count:1283)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1486 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:73082188-73082734	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:73090636-73091153	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:73084597-73085062	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:73087215-73090250	HepG2	liver:	n/a	chr16:73088864-73088880
5	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
6	ATF2	chr16:73087249-73087798	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr16:73087152-73087977	A549	lung:	n/a	chr16:73087751-73087759 chr16:73087752-73087759 chr16:73087752-73087762 chr16:73087748-73087761 chr16:73087748-73087763
8	ATF3	chr16:73087187-73088225	A549	lung:	n/a	chr16:73087751-73087759 chr16:73087752-73087759 chr16:73087752-73087762 chr16:73087748-73087761 chr16:73087748-73087763
9	BACH1	chr16:73081480-73081892	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr16:73082469-73082587	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr16:73086789-73086897	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr16:73091594-73091724	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr16:73087258-73087631	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr16:73089380-73090159	A549	lung:	n/a	n/a
15	BCL3	chr16:73081156-73081934	A549	lung:	n/a	chr16:73081601-73081614 chr16:73081788-73081801 chr16:73081614-73081627 chr16:73081913-73081926 chr16:73081731-73081740 chr16:73081709-73081722
16	BCL3	chr16:73086982-73087936	A549	lung:	n/a	chr16:73087255-73087268
17	BCL3	chr16:73081598-73082041	GM12878	blood:	n/a	chr16:73081601-73081614 chr16:73081788-73081801 chr16:73081614-73081627 chr16:73081913-73081926 chr16:73081731-73081740 chr16:73081709-73081722
18	BCL3	chr16:73087021-73088046	A549	lung:	n/a	chr16:73087952-73087965 chr16:73087255-73087268
19	BCLAF1	chr16:73081637-73082354	GM12878	blood:	n/a	chr16:73081788-73081801 chr16:73081913-73081926 chr16:73081731-73081740 chr16:73081709-73081722
20	BHLHE40	chr16:73091019-73091030	HepG2	liver:	n/a	n/a
21	BHLHE40	chr16:73092227-73092436	GM12878	blood:	n/a	chr16:73092375-73092391 chr16:73092380-73092396
22	BHLHE40	chr16:73089253-73090123	HepG2	liver:	n/a	n/a
23	BHLHE40	chr16:73081488-73081915	HepG2	liver:	n/a	chr16:73081593-73081609
24	BHLHE40	chr16:73082115-73082700	HepG2	liver:	n/a	chr16:73082227-73082243
25	BHLHE40	chr16:73081555-73082288	GM12878	blood:	n/a	chr16:73081993-73082009 chr16:73082227-73082243 chr16:73081593-73081609
26	BHLHE40	chr16:73087420-73087847	HepG2	liver:	n/a	n/a
27	BHLHE40	chr16:73083449-73083722	HepG2	liver:	n/a	n/a
28	BRCA1	chr16:73080661-73081657	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr16:73086734-73090278	Hela-S3	cervix:	n/a	chr16:73089202-73089209
30	BRCA1	chr16:73082409-73083234	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr16:73089898-73090191	HepG2	liver:	n/a	n/a
32	CEBPB	chr16:73088984-73089637	MCF-7	breast:	n/a	n/a
33	CEBPB	chr16:73088086-73088263	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:73088539-73089266	MCF-7	breast:	n/a	n/a
35	CEBPB	chr16:73089494-73090297	IMR90	lung:	n/a	n/a
36	CEBPB	chr16:73088495-73089001	A549	lung:	n/a	n/a
37	CEBPB	chr16:73080775-73082713	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr16:73091490-73091661	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr16:73088521-73088942	MCF-7	breast:	n/a	n/a
40	CEBPB	chr16:73088547-73088853	A549	lung:	n/a	n/a
41	CEBPB	chr16:73087155-73088251	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr16:73088499-73090319	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr16:73088571-73088952	IMR90	lung:	n/a	n/a
44	CEBPB	chr16:73088578-73088947	HepG2	liver:	n/a	n/a
45	CEBPB	chr16:73089919-73090269	A549	lung:	n/a	n/a
46	CEBPB	chr16:73089729-73090385	A549	lung:	n/a	n/a
47	CEBPB	chr16:73089246-73090249	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:73086785-73086856	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr16:73089686-73090243	HepG2	liver:	n/a	n/a
50	CEBPB	chr16:73089704-73090186	HepG2	liver:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:73092823-73092873	AoSMC	blood vessel:	n/a
2	chr16:73082503-73082553	NH-A	brain:	n/a
3	chr16:73092823-73092873	AoSMC	blood vessel:	n/a
4	chr16:73082503-73082553	NH-A	brain:	n/a
5	chr16:73081722-73081772	HRCEpiC	kidney:	n/a
6	chr16:73081558-73081608	ECC-1	luminal epithelium:	n/a
7	chr16:73083327-73083377	BE2_C	brain:	n/a
8	chr16:73081124-73081174	HAEpiC	amniotic membrane:	n/a
9	chr16:73081124-73081174	AoSMC	blood vessel:	n/a
10	chr16:73081722-73081772	ECC-1	luminal epithelium:	n/a
11	chr16:73092394-73092444	GM12892	blood:	n/a
12	chr16:73083863-73083913	HEK293	kidney:	embryo
13	chr16:73092394-73092444	SK-N-SH	brain:	n/a
14	chr16:73092391-73092441	HRCEpiC	kidney:	n/a
15	chr16:73082405-73082455	HCPEpiC	choroid plexus:	n/a
16	chr16:73090646-73090696	HCPEpiC	choroid plexus:	n/a
17	chr16:73082405-73082455	AG09319	gingival:	n/a
18	chr16:73080909-73080959	BJ	skin:	n/a
19	chr16:73083327-73083377	AG10803	skin:	n/a
20	chr16:73092823-73092873	HMEC	breast:	n/a
21	chr16:73082051-73082101	HEK293	kidney:	embryo
22	chr16:73082503-73082553	ECC-1	luminal epithelium:	n/a
23	chr16:73082051-73082101	NB4	blood:	n/a
24	chr16:73081558-73081608	RPTEC	kidney:	n/a
25	chr16:73091565-73091615	CMK	blood:	n/a
26	chr16:73092394-73092444	AG04450	lung:	fetal
27	chr16:73091917-73091967	HRCEpiC	kidney:	n/a
28	chr16:73092823-73092873	HCF	heart:	n/a
29	chr16:73092394-73092444	GM19239	blood:	n/a
30	chr16:73081124-73081174	GM06990	blood:	n/a
31	chr16:73082503-73082553	A549	lung:	n/a
32	chr16:73090838-73090888	K562	blood:	n/a
33	chr16:73092823-73092873	NHBE	bronchial:	n/a
34	chr16:73081124-73081174	HUVEC	blood vessel:	n/a
35	chr16:73090646-73090696	PrEC	prostate:	n/a
36	chr16:73090723-73090773	Caco-2	colon:	n/a
37	chr16:73085092-73085142	HepG2	liver:	n/a
38	chr16:73082535-73082585	IMR90	lung:	fetal
39	chr16:73082535-73082585	ProgFib	skin:	n/a
40	chr16:73088677-73088727	HCPEpiC	choroid plexus:	n/a
41	chr16:73083014-73083064	AG09309	skin:	n/a
42	chr16:73082535-73082585	PANC-1	pancreas:	n/a
43	chr16:73083014-73083064	PFSK-1	brain:	n/a
44	chr16:73082051-73082101	A549	lung:	n/a
45	chr16:73081558-73081608	HMEC	breast:	n/a
46	chr16:73090646-73090696	ECC-1	luminal epithelium:	n/a
47	chr16:73088677-73088727	HRPEpiC	eye:	n/a
48	chr16:73092391-73092441	HepG2	liver:	n/a
49	chr16:73082051-73082101	ovcar-3	ovarian:	n/a
50	chr16:73092823-73092873	HEK293	kidney:	embryo

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:73080238..73082022-chr16:73230296..73232241,3	MCF-7	breast:
2	chr16:73081344..73082144-chr16:73090114..73090753,2	MCF-7	breast:
3	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
4	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:
5	chr16:72963484..72964015-chr16:73089052..73089953,2	MCF-7	breast:
6	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
7	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
8	chr16:73088393..73091029-chr16:73316559..73318962,2	MCF-7	breast:
9	chr10:126604774..126605466-chr16:73081008..73081765,2	HCT-116	colon:
10	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
11	chr16:72963064..72963982-chr16:73080753..73081569,2	MCF-7	breast:
12	chr16:72697417..72699588-chr16:73081408..73083430,2	MCF-7	breast:
13	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
14	chr16:72943044..72944852-chr16:73087640..73090258,2	MCF-7	breast:
15	chr16:73061921..73064545-chr16:73083761..73085497,2	K562	blood:
16	chr16:73052788..73055370-chr16:73088414..73091315,3	MCF-7	breast:
17	chr16:72849283..72851789-chr16:73089410..73091009,2	MCF-7	breast:
18	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
19	chr16:72833626..72835422-chr16:73088428..73090096,2	MCF-7	breast:
20	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
21	chr16:72902697..72904842-chr16:73086116..73088672,2	MCF-7	breast:
22	chr16:72947016..72947886-chr16:73089092..73089868,3	MCF-7	breast:
23	chr16:73015896..73018125-chr16:73080034..73081873,2	MCF-7	breast:
24	chr16:72961643..72964004-chr16:73079315..73080843,2	MCF-7	breast:
25	chr16:73013583..73015473-chr16:73077986..73080970,2	MCF-7	breast:
26	chr16:73088044..73089636-chr2:188441847..188444162,2	MCF-7	breast:
27	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:
28	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
29	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
30	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
31	chr16:73081344..73082144-chr16:73090114..73090753,2	MCF-7	breast:
32	chr16:73082425..73084366-chr16:73087319..73089804,2	K562	blood:
33	chr16:73082165..73082838-chr3:119182253..119183080,2	Hela-S3	cervix:
34	chr16:73079572..73082318-chr20:47893327..47894855,2	MCF-7	breast:
35	chr16:72820675..72822937-chr16:73088411..73090468,2	MCF-7	breast:
36	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
37	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
38	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
39	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
40	chr16:72865125..72866721-chr16:73087210..73088768,2	MCF-7	breast:
41	chr16:72889241..72891331-chr16:73087396..73089163,2	MCF-7	breast:
42	chr16:73058271..73060863-chr16:73088850..73091395,2	MCF-7	breast:
43	chr16:73046781..73051112-chr16:73086849..73089877,3	MCF-7	breast:
44	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
45	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
46	chr16:73080234..73082394-chr9:86236447..86238062,2	MCF-7	breast:
47	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
48	chr16:73049519..73050143-chr16:73089033..73089911,2	MCF-7	breast:
49	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
50	chr16:72994804..72996648-chr16:73085703..73088128,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZFHX3	TF binding region
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ZFHX3	CpG island
ENSG00000272250	CpG island
ENSG00000271009	CpG island
ENSG00000259768	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000265573	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000261008	chromatin interactions
ENSG00000101608	chromatin interactions
ENSG00000272330	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000103035	chromatin interactions
ENSG00000221799	chromatin interactions
ENSG00000176142	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000148057	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000261404	chromatin interactions

Extended variants
information (count: 531 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11641701	chr16:73079212-73079213	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552292390	chr16:73079217-73079218	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201454505	chr16:73079238-73079239	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62055071	chr16:73079239-73079240	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537652363	chr16:73079244-73079245	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555905707	chr16:73079271-73079272	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62055072	chr16:73079312-73079313	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535769395	chr16:73079319-73079320	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190352700	chr16:73079320-73079321	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141888850	chr16:73079326-73079327	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182916220	chr16:73079364-73079365	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs28594767	chr16:73079415-73079416	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576175047	chr16:73079427-73079428	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs578138927	chr16:73079469-73079470	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144604708	chr16:73079486-73079487	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs72120451	chr16:73079540-73079541	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563107250	chr16:73079542-73079543	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs59814643	chr16:73079573-73079574	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs71156133	chr16:73079579-73079580	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200603568	chr16:73079583-73079584	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199507242	chr16:73079584-73079585	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537049243	chr16:73079607-73079608	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564804689	chr16:73079632-73079633	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556876899	chr16:73079634-73079635	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530209847	chr16:73079671-73079672	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7204751	chr16:73079683-73079684	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376697150	chr16:73079702-73079703	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs367927837	chr16:73079703-73079704	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371494914	chr16:73079704-73079705	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201831344	chr16:73079706-73079707	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375715224	chr16:73079712-73079713	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs36063079	chr16:73079713-73079714	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368365107	chr16:73079714-73079715	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188020267	chr16:73079818-73079819	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372897850	chr16:73079837-73079838	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560613391	chr16:73079861-73079862	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527694245	chr16:73079870-73079871	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78672151	chr16:73079925-73079926	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77559045	chr16:73079939-73079940	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs190760239	chr16:73079942-73079943	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375856535	chr16:73079948-73079949	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549841772	chr16:73079956-73079957	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545193576	chr16:73079982-73079983	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573135336	chr16:73080007-73080008	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs535284580	chr16:73080015-73080016	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184053657	chr16:73080063-73080064	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs572203281	chr16:73080130-73080131	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs62055073	chr16:73080131-73080132	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187557990	chr16:73080150-73080151	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148518582	chr16:73080209-73080210	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73067800-73081400	Weak transcription	Small Intestine	intestine
2	chr16:73070400-73080400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:73071000-73079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:73071200-73081200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr16:73071600-73081200	Weak transcription	Esophagus	oesophagus
6	chr16:73072200-73080000	Weak transcription	Stomach Mucosa	stomach
7	chr16:73072400-73080000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:73072400-73080800	Weak transcription	Spleen	Spleen
9	chr16:73072600-73080200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:73074800-73080600	Weak transcription	HMEC	breast
11	chr16:73075000-73079400	Enhancers	Fetal Lung	lung
12	chr16:73075000-73080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:73075400-73080000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr16:73076000-73080600	Enhancers	Psoas Muscle	Psoas
15	chr16:73076000-73081000	Enhancers	Placenta	Placenta
16	chr16:73076200-73081000	Enhancers	Fetal Muscle Leg	muscle
17	chr16:73076200-73081200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr16:73076400-73079400	Enhancers	Brain Substantia Nigra	brain
19	chr16:73076400-73080000	Enhancers	Brain Hippocampus Middle	brain
20	chr16:73076400-73080200	Enhancers	Adipose Nuclei	Adipose
21	chr16:73076600-73079600	Enhancers	Rectal Smooth Muscle	rectum
22	chr16:73076600-73080000	Enhancers	HepG2	liver
23	chr16:73076600-73080800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:73076600-73081000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:73076600-73081200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:73076800-73079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:73077000-73079400	Enhancers	Fetal Stomach	stomach
28	chr16:73077000-73080000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:73077000-73080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:73077000-73080800	Enhancers	Fetal Kidney	kidney
31	chr16:73077000-73081200	Enhancers	Fetal Heart	heart
32	chr16:73077200-73081400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr16:73077400-73080000	Enhancers	NHDF-Ad	bronchial
34	chr16:73077400-73080600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:73077600-73079800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:73077600-73080200	Weak transcription	Lung	lung
37	chr16:73077600-73080800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:73077800-73079800	Enhancers	HSMMtube	muscle
39	chr16:73077800-73081200	Weak transcription	Colonic Mucosa	Colon
40	chr16:73078000-73079800	Weak transcription	Fetal Intestine Large	intestine
41	chr16:73078000-73080000	Enhancers	Hela-S3	cervix
42	chr16:73078000-73080200	Weak transcription	Right Ventricle	heart
43	chr16:73078000-73080200	Enhancers	Osteobl	bone
44	chr16:73078400-73080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:73078400-73080000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr16:73078400-73080000	Enhancers	HSMM	muscle
47	chr16:73078400-73080200	Weak transcription	Aorta	Aorta
48	chr16:73078400-73080200	Weak transcription	Brain Anterior Caudate	brain
49	chr16:73078400-73080200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr16:73078400-73080400	Enhancers	Colon Smooth Muscle	Colon

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