Variant report

Variant	esv1823848
Chromosome Location	chr2:133012144-133030228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4981)
CpG islands
(count:1652)
Chromatin interactive
region (count:172)
LncRNA
region (count:4)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:4981 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133024878-133031935	K562	blood:	n/a	n/a
2	ARID3A	chr2:133011761-133013355	K562	blood:	n/a	n/a
3	ARID3A	chr2:133024999-133028006	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:133021777-133024659	K562	blood:	n/a	n/a
5	ARID3A	chr2:133015019-133015747	K562	blood:	n/a	n/a
6	ATF1	chr2:133016237-133017446	K562	blood:	n/a	n/a
7	ATF1	chr2:133018613-133021289	K562	blood:	n/a	n/a
8	ATF1	chr2:133021765-133024691	K562	blood:	n/a	n/a
9	ATF1	chr2:133024991-133031933	K562	blood:	n/a	n/a
10	ATF1	chr2:133011772-133013346	K562	blood:	n/a	n/a
11	ATF2	chr2:133012312-133013340	GM12878	blood:	n/a	n/a
12	ATF2	chr2:133011789-133012265	GM12878	blood:	n/a	n/a
13	ATF2	chr2:133011823-133013332	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:133011825-133013352	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:133028916-133031075	GM12878	blood:	n/a	n/a
16	ATF2	chr2:133012462-133013089	GM12878	blood:	n/a	n/a
17	ATF3	chr2:133016311-133016564	HepG2	liver:	n/a	n/a
18	ATF3	chr2:133026663-133026887	GM12878	blood:	n/a	n/a
19	ATF3	chr2:133025728-133025957	K562	blood:	n/a	n/a
20	ATF3	chr2:133016628-133016997	K562	blood:	n/a	n/a
21	ATF3	chr2:133015084-133015367	K562	blood:	n/a	n/a
22	ATF3	chr2:133023055-133023668	K562	blood:	n/a	n/a
23	ATF3	chr2:133012465-133012990	GM12878	blood:	n/a	n/a
24	ATF3	chr2:133016618-133017347	HepG2	liver:	n/a	n/a
25	ATF3	chr2:133024910-133027663	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF3	chr2:133029476-133030077	HepG2	liver:	n/a	n/a
27	ATF3	chr2:133030177-133031040	K562	blood:	n/a	n/a
28	ATF3	chr2:133012403-133013259	HepG2	liver:	n/a	n/a
29	ATF3	chr2:133030081-133030808	K562	blood:	n/a	n/a
30	ATF3	chr2:133022578-133022840	K562	blood:	n/a	n/a
31	ATF3	chr2:133026588-133027175	K562	blood:	n/a	n/a
32	ATF3	chr2:133018720-133019129	K562	blood:	n/a	n/a
33	ATF3	chr2:133015023-133015421	HepG2	liver:	n/a	n/a
34	ATF3	chr2:133015086-133015491	A549	lung:	n/a	n/a
35	ATF3	chr2:133025549-133026035	HepG2	liver:	n/a	n/a
36	ATF3	chr2:133015456-133015748	HepG2	liver:	n/a	n/a
37	ATF3	chr2:133025667-133026458	K562	blood:	n/a	n/a
38	ATF3	chr2:133028279-133028662	HepG2	liver:	n/a	n/a
39	ATF3	chr2:133015927-133017546	K562	blood:	n/a	n/a
40	ATF3	chr2:133026082-133027274	HepG2	liver:	n/a	n/a
41	ATF3	chr2:133018709-133019159	HepG2	liver:	n/a	n/a
42	ATF3	chr2:133011744-133013434	A549	lung:	n/a	n/a
43	ATF3	chr2:133022327-133022859	HepG2	liver:	n/a	n/a
44	ATF3	chr2:133021822-133031930	K562	blood:	n/a	n/a
45	ATF3	chr2:133028832-133029372	HepG2	liver:	n/a	n/a
46	ATF3	chr2:133020043-133020233	K562	blood:	n/a	n/a
47	ATF3	chr2:133012415-133012641	K562	blood:	n/a	n/a
48	ATF3	chr2:133011752-133013354	A549	lung:	n/a	n/a
49	ATF3	chr2:133017036-133017375	K562	blood:	n/a	n/a
50	ATF3	chr2:133012465-133013223	K562	blood:	n/a	n/a

(count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133016799-133016849	K562	blood:	n/a
2	chr2:133013048-133013098	AG10803	skin:	n/a
3	chr2:133014684-133014734	HCPEpiC	choroid plexus:	n/a
4	chr2:133012353-133012403	HCT-116	colon:	n/a
5	chr2:133014663-133014713	AG04449	skin:	fetal
6	chr2:133016799-133016849	K562	blood:	n/a
7	chr2:133013048-133013098	AG10803	skin:	n/a
8	chr2:133014684-133014734	HCPEpiC	choroid plexus:	n/a
9	chr2:133012353-133012403	HCT-116	colon:	n/a
10	chr2:133014663-133014713	AG04449	skin:	fetal
11	chr2:133015639-133015689	MCF10A-Er-Src	breast:	n/a
12	chr2:133014765-133014815	AG10803	skin:	n/a
13	chr2:133012853-133012903	ovcar-3	ovarian:	n/a
14	chr2:133015665-133015715	SK-N-SH_RA	brain:	n/a
15	chr2:133022980-133023030	HepG2	liver:	n/a
16	chr2:133013489-133013539	AG09309	skin:	n/a
17	chr2:133013792-133013842	HUVEC	blood vessel:	n/a
18	chr2:133025652-133025702	T-47D	breast:	n/a
19	chr2:133025835-133025885	HRPEpiC	eye:	n/a
20	chr2:133023100-133023150	SKMC	muscle:	n/a
21	chr2:133025917-133025967	HAEpiC	amniotic membrane:	n/a
22	chr2:133025652-133025702	BJ	skin:	n/a
23	chr2:133013028-133013078	MCF-7	breast:	n/a
24	chr2:133013489-133013539	MCF10A-Er-Src	breast:	n/a
25	chr2:133014784-133014834	Jurkat	blood:	n/a
26	chr2:133025917-133025967	RPTEC	kidney:	n/a
27	chr2:133014765-133014815	HRCEpiC	kidney:	n/a
28	chr2:133014640-133014690	GM06990	blood:	n/a
29	chr2:133012853-133012903	SK-N-MC	brain:	n/a
30	chr2:133022980-133023030	PrEC	prostate:	n/a
31	chr2:133015268-133015318	T-47D	breast:	n/a
32	chr2:133014640-133014690	T-47D	breast:	n/a
33	chr2:133015268-133015318	Caco-2	colon:	n/a
34	chr2:133016799-133016849	HIPEpiC	eye:	n/a
35	chr2:133014805-133014855	GM19239	blood:	n/a
36	chr2:133016799-133016849	HepG2	liver:	n/a
37	chr2:133016453-133016503	MCF-7	breast:	n/a
38	chr2:133022807-133022857	K562	blood:	n/a
39	chr2:133015268-133015318	HRE	kidney:	n/a
40	chr2:133014684-133014734	GM12878	blood:	n/a
41	chr2:133014784-133014834	ECC-1	luminal epithelium:	n/a
42	chr2:133015670-133015720	AG09309	skin:	n/a
43	chr2:133013792-133013842	HRPEpiC	eye:	n/a
44	chr2:133014698-133014748	GM06990	blood:	n/a
45	chr2:133016799-133016849	AG09309	skin:	n/a
46	chr2:133016453-133016503	MCF10A-Er-Src	breast:	n/a
47	chr2:133015268-133015318	SK-N-MC	brain:	n/a
48	chr2:133012853-133012903	IMR90	lung:	fetal
49	chr2:133025917-133025967	MCF10A-Er-Src	breast:	n/a
50	chr2:133012853-133012903	PANC-1	pancreas:	n/a

(count:172 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr16:33955972..33956886-chr2:133025802..133026709,6	MCF-7	breast:
2	chr2:133030105..133030792-chr21:9826729..9827341,2	MCF-7	breast:
3	chr16:33956612..33957213-chr2:133025308..133026295,3	HCT-116	colon:
4	chr19:27732209..27732712-chr2:133011942..133012867,2	MCF-7	breast:
5	chr1:91851357..91852890-chr2:133010879..133013835,2	K562	blood:
6	chr16:33957408..33958237-chr2:133027029..133027823,2	MCF-7	breast:
7	chr17:45214522..45216075-chr2:133020178..133021840,3	MCF-7	breast:
8	chr12:38535401..38535902-chr2:133016817..133017415,2	MCF-7	breast:
9	chr16:33955898..33957631-chr2:133025048..133026808,38	MCF-7	breast:
10	chr17:45213971..45214683-chr2:133020743..133021713,3	MCF-7	breast:
11	chr2:133014727..133015757-chr20:26189158..26190413,12	MCF-7	breast:
12	chr17:45231539..45232062-chr2:133019343..133019865,2	MCF-7	breast:
13	chr2:133014711..133015248-chr21:9825009..9826345,4	MCF-7	breast:
14	chr2:133029314..133031759-chr21:9825745..9827312,2	K562	blood:
15	chr2:133025947..133028301-chr2:133028969..133031969,4	K562	blood:
16	chr17:45257479..45260473-chr2:133018355..133021074,2	MCF-7	breast:
17	chr16:33955996..33957194-chr2:133025297..133026709,5	MCF-7	breast:
18	chr16:33962831..33965453-chr2:133011419..133013464,21	MCF-7	breast:
19	chr16:33962584..33963354-chr2:133014717..133015279,2	MCF-7	breast:
20	chr16:33958834..33966480-chr2:133009904..133018933,30	MCF-7	breast:
21	chr2:133025804..133026802-chr20:57273035..57273556,4	K562	blood:
22	chr2:133016687..133017416-chr8:46947342..46948320,4	MCF-7	breast:
23	chr17:45265036..45266637-chr2:133016777..133019333,4	MCF-7	breast:
24	chr2:133026305..133027045-chr20:54154213..54154785,2	MCF-7	breast:
25	chr2:133021735..133023570-chr2:133028674..133030666,2	K562	blood:
26	chr2:133029837..133030626-chr20:26189306..26190000,2	MCF-7	breast:
27	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:
28	chr16:33959224..33959998-chr2:133022949..133023703,3	MCF-7	breast:
29	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:
30	chr16:33953770..33959520-chr2:133023575..133028433,10	K562	blood:
31	chr2:133026098..133026689-chr2:133106836..133107370,2	MCF-7	breast:
32	chr2:133014704..133015213-chr20:26189092..26189806,2	K562	blood:
33	chr16:33956479..33957946-chr2:133025178..133026405,11	MCF-7	breast:
34	chr17:45219242..45219762-chr2:133020111..133020672,2	MCF-7	breast:
35	chr2:133014633..133016102-chr20:26188637..26190095,17	MCF-7	breast:
36	chr16:33951725..33955226-chr2:133029342..133032486,5	K562	blood:
37	chr17:45221257..45221782-chr2:133016917..133017640,2	MCF-7	breast:
38	chr2:133010417..133015279-chr21:9824040..9829010,45	K562	blood:
39	chr18:33678106..33679707-chr2:133025263..133026972,2	MCF-7	breast:
40	chr16:33962970..33965065-chr2:133011472..133013456,38	MCF-7	breast:
41	chr2:133021735..133023570-chr2:133028674..133030666,2	K562	blood:
42	chr16:33960786..33961788-chr2:133014681..133015238,5	MCF-7	breast:
43	chr16:33963085..33964229-chr2:133012332..133013517,6	HCT-116	colon:
44	chr10:30721305..30723752-chr2:133028432..133030196,2	MCF-7	breast:
45	chr16:33960780..33961390-chr2:133014727..133015238,2	K562	blood:
46	chr16:33958782..33959817-chr2:133022675..133023764,8	MCF-7	breast:
47	chr16:33963110..33963928-chr2:133012264..133013394,10	K562	blood:
48	chr2:133014708..133015262-chr20:26189030..26189862,4	HCT-116	colon:
49	chr16:33952711..33953408-chr2:133029774..133030301,2	MCF-7	breast:
50	chr2:133014700..133015740-chr21:9825972..9827148,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-10	chr2:133013340-133013485	NONHSAT074516
2	lnc-ANKRD30BL-3	chr2:133015102-133015542	NONHSAT074513
3	lnc-GPR39-10	chr2:133013066-133013266	NONHSAT074516
4	lnc-GPR39-9	chr2:133019901-133020615	NONHSAT074520

miRNA name	Chromosome Location	mirBase accession
hsa-miR-663b	chr2:133014543-133014564	MIMAT0005867

No data

Variant related genes	Relation type
ANKRD30BL	TF binding region
CDC27P1	TF binding region
MIR663B	TF binding region
RNA5-8SP5	TF binding region
ANKRD30BL	CpG island
CDC27P1	CpG island
MIR663B	CpG island
RNA5-8SP5	CpG island
ENSG00000226958	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000256663	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000198133	chromatin interactions
ENSG00000161888	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000140538	chromatin interactions
ENSG00000256616	chromatin interactions
ENSG00000107968	chromatin interactions
ENSG00000207986	chromatin interactions
HRASLS5	Mature miRNA region

Extended variants
information (count: 3477 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3477 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75787475	chr2:133012147-133012148	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs76441025	chr2:133012159-133012160	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs80317269	chr2:133012170-133012171	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs78017871	chr2:133012171-133012172	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs16849032	chr2:133012172-133012173	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547634112	chr2:133012173-133012174	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs373945579	chr2:133012177-133012178	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs75644235	chr2:133012182-133012183	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs376880286	chr2:133012183-133012184	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs368875818	chr2:133012185-133012186	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs373368507	chr2:133012190-133012191	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs377374564	chr2:133012199-133012200	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs370791081	chr2:133012208-133012209	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs373976116	chr2:133012210-133012211	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs377342816	chr2:133012211-133012212	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs113802263	chr2:133012216-133012217	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs370686339	chr2:133012217-133012218	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs76957656	chr2:133012219-133012220	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs536478348	chr2:133012224-133012225	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs554788548	chr2:133012233-133012234	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs79700179	chr2:133012250-133012251	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs200451805	chr2:133012256-133012257	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs537146531	chr2:133012258-133012259	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs62164990	chr2:133012267-133012268	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs62164991	chr2:133012274-133012275	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs558271659	chr2:133012293-133012294	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs576733877	chr2:133012308-133012309	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs62164992	chr2:133012309-133012310	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs79411258	chr2:133012317-133012318	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs541378708	chr2:133012338-133012339	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs79046621	chr2:133012350-133012351	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs79887166	chr2:133012354-133012355	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs79119939	chr2:133012358-133012359	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs76646932	chr2:133012362-133012363	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs77381976	chr2:133012363-133012364	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs73957370	chr2:133012369-133012370	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs148255475	chr2:133012371-133012372	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs76058384	chr2:133012378-133012379	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs79817044	chr2:133012381-133012382	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs79637232	chr2:133012392-133012393	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs574772722	chr2:133012398-133012399	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs77225707	chr2:133012401-133012402	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs75058256	chr2:133012406-133012407	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs79812256	chr2:133012414-133012415	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs542055421	chr2:133012420-133012421	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs75385145	chr2:133012426-133012427	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs77834624	chr2:133012432-133012433	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs80187025	chr2:133012436-133012437	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs563533832	chr2:133012437-133012438	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs113538090	chr2:133012439-133012440	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1684 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133008400-133013200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr2:133008400-133017400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr2:133009800-133017400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:133009800-133017600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:133010400-133017400	ZNF genes & repeats	Colonic Mucosa	Colon
6	chr2:133010400-133017400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr2:133010400-133017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr2:133010600-133012600	ZNF genes & repeats	Fetal Stomach	stomach
9	chr2:133010600-133017400	ZNF genes & repeats	Dnd41	blood
10	chr2:133011000-133017600	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr2:133011400-133017400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr2:133011600-133017400	ZNF genes & repeats	Fetal Thymus	thymus
13	chr2:133011800-133012200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:133011800-133012600	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr2:133011800-133013200	Flanking Bivalent TSS/Enh	Gastric	stomach
16	chr2:133011800-133013200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
17	chr2:133011800-133013400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:133011800-133013400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:133011800-133013400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr2:133011800-133013400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr2:133011800-133013400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr2:133011800-133013400	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr2:133011800-133013400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr2:133011800-133013400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr2:133011800-133013400	ZNF genes & repeats	Ovary	ovary
26	chr2:133011800-133013400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr2:133011800-133013400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr2:133011800-133013400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr2:133011800-133013800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:133011800-133013800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:133011800-133014400	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr2:133011800-133016000	ZNF genes & repeats	Fetal Brain Male	brain
33	chr2:133011800-133016600	ZNF genes & repeats	Pancreas	Pancrea
34	chr2:133011800-133017400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr2:133011800-133017400	ZNF genes & repeats	Esophagus	oesophagus
36	chr2:133011800-133017400	ZNF genes & repeats	Fetal Brain Female	brain
37	chr2:133011800-133017400	ZNF genes & repeats	Small Intestine	intestine
38	chr2:133011800-133017400	ZNF genes & repeats	Thymus	Thymus
39	chr2:133011800-133017400	ZNF genes & repeats	Spleen	Spleen
40	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr2:133012000-133012200	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
47	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr2:133012000-133012400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:133012000-133012400	ZNF genes & repeats	Liver	Liver
50	chr2:133012000-133012400	Bivalent/Poised TSS	Brain Angular Gyrus	brain

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