Variant report

Variant	nsv899570
Chromosome Location	chr12:122985057-123089209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2686)
CpG islands
(count:2200)
Chromatin interactive
region (count:148)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:2686 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123011109-123012007	HepG2	liver:	n/a	chr12:123011786-123011798
2	ARID3A	chr12:122985435-122985719	K562	blood:	n/a	n/a
3	ARID3A	chr12:122985243-122985815	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123011140-123011906	K562	blood:	n/a	chr12:123011786-123011798
5	ATF1	chr12:123011085-123011943	K562	blood:	n/a	n/a
6	ATF1	chr12:122985362-122985803	K562	blood:	n/a	n/a
7	ATF2	chr12:123010816-123012117	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:122985173-122986259	GM12878	blood:	n/a	n/a
9	ATF2	chr12:123043319-123043679	GM12878	blood:	n/a	n/a
10	ATF2	chr12:122985323-122986576	GM12878	blood:	n/a	n/a
11	ATF2	chr12:122985277-122985882	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:123010934-123011988	GM12878	blood:	n/a	n/a
13	ATF2	chr12:122986687-122987091	GM12878	blood:	n/a	n/a
14	ATF2	chr12:123010636-123012243	GM12878	blood:	n/a	n/a
15	ATF2	chr12:123013571-123014062	GM12878	blood:	n/a	n/a
16	ATF2	chr12:123011009-123012034	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr12:122987889-122988655	GM12878	blood:	n/a	n/a
18	ATF2	chr12:122985291-122986015	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr12:122985327-122986053	GM12878	blood:	n/a	chr12:122985538-122985547
20	ATF3	chr12:123010835-123012327	A549	lung:	n/a	n/a
21	ATF3	chr12:122985174-122986463	A549	lung:	n/a	chr12:122985538-122985547
22	ATF3	chr12:123002266-123002709	K562	blood:	n/a	n/a
23	ATF3	chr12:123011181-123012030	K562	blood:	n/a	n/a
24	ATF3	chr12:123011041-123012140	A549	lung:	n/a	n/a
25	ATF3	chr12:122985410-122985759	K562	blood:	n/a	chr12:122985538-122985547
26	BACH1	chr12:122987020-122987111	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr12:122984638-122985686	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr12:123013537-123013972	GM12878	blood:	n/a	n/a
29	BATF	chr12:122998602-122998888	GM12878	blood:	n/a	chr12:122998763-122998774
30	BATF	chr12:123013601-123013950	GM12878	blood:	n/a	n/a
31	BATF	chr12:122985918-122986436	GM12878	blood:	n/a	n/a
32	BCL3	chr12:122988345-122988690	K562	blood:	n/a	n/a
33	BCL3	chr12:122985078-122986601	A549	lung:	n/a	chr12:122985573-122985586
34	BCL3	chr12:122984606-122986142	A549	lung:	n/a	chr12:122985573-122985586
35	BCL3	chr12:123010650-123012597	A549	lung:	n/a	chr12:123011026-123011035
36	BCL3	chr12:122989121-122989754	K562	blood:	n/a	n/a
37	BCL3	chr12:123010865-123012191	A549	lung:	n/a	chr12:123011026-123011035
38	BCL3	chr12:122986678-122987346	A549	lung:	n/a	chr12:122986875-122986884
39	BCL3	chr12:122987737-122988170	GM12878	blood:	n/a	n/a
40	BCL3	chr12:122987462-122989030	A549	lung:	n/a	chr12:122988303-122988312
41	BCL3	chr12:122987707-122988180	GM12878	blood:	n/a	n/a
42	BCL3	chr12:122987474-122988962	K562	blood:	n/a	chr12:122988303-122988312
43	BCLAF1	chr12:122985170-122985823	K562	blood:	n/a	chr12:122985573-122985586
44	BCLAF1	chr12:122998471-122998887	GM12878	blood:	n/a	n/a
45	BCLAF1	chr12:122984533-122986089	GM12878	blood:	n/a	chr12:122985573-122985586
46	BCLAF1	chr12:123012137-123012854	GM12878	blood:	n/a	n/a
47	BCLAF1	chr12:123028994-123029543	GM12878	blood:	n/a	n/a
48	BCLAF1	chr12:123010989-123012061	GM12878	blood:	n/a	chr12:123011026-123011035
49	BCLAF1	chr12:122986709-122987173	GM12878	blood:	n/a	chr12:122986875-122986884
50	BCLAF1	chr12:123030163-123030627	GM12878	blood:	n/a	n/a

(count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123011757-123011807	GM19239	blood:	n/a
2	chr12:123011589-123011639	GM06990	blood:	n/a
3	chr12:123007555-123007605	HL-60	blood:	n/a
4	chr12:123012300-123012350	HMEC	breast:	n/a
5	chr12:123011757-123011807	GM19239	blood:	n/a
6	chr12:123011589-123011639	GM06990	blood:	n/a
7	chr12:123007555-123007605	HL-60	blood:	n/a
8	chr12:123012300-123012350	HMEC	breast:	n/a
9	chr12:122985487-122985537	SK-N-SH	brain:	n/a
10	chr12:123011533-123011583	SK-N-MC	brain:	n/a
11	chr12:123012300-123012350	Caco-2	colon:	n/a
12	chr12:123011691-123011741	HCPEpiC	choroid plexus:	n/a
13	chr12:123011310-123011360	A549	lung:	n/a
14	chr12:123076854-123076904	PFSK-1	brain:	n/a
15	chr12:123011565-123011615	BE2_C	brain:	n/a
16	chr12:123011833-123011883	Hepatocyte	liver:	n/a
17	chr12:123011730-123011780	RPTEC	kidney:	n/a
18	chr12:122986464-122986514	AG04449	skin:	fetal
19	chr12:122986080-122986130	NHBE	bronchial:	n/a
20	chr12:123011792-123011842	HRPEpiC	eye:	n/a
21	chr12:123011310-123011360	NHBE	bronchial:	n/a
22	chr12:122985044-122985094	HCM	heart:	n/a
23	chr12:122986080-122986130	PFSK-1	brain:	n/a
24	chr12:123011792-123011842	SK-N-MC	brain:	n/a
25	chr12:122985543-122985593	NT2-D1	testis:	n/a
26	chr12:122985487-122985537	AG10803	skin:	n/a
27	chr12:123012351-123012401	ovcar-3	ovarian:	n/a
28	chr12:122985803-122985853	AG04449	skin:	fetal
29	chr12:123058028-123058078	HMEC	breast:	n/a
30	chr12:123077521-123077571	NHDF-neo	bronchial:	n/a
31	chr12:123001840-123001890	HepG2	liver:	n/a
32	chr12:123011691-123011741	AG10803	skin:	n/a
33	chr12:123011538-123011588	HL-60	blood:	n/a
34	chr12:123001840-123001890	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:122985487-122985537	AG04450	lung:	fetal
36	chr12:123011700-123011750	A549	lung:	n/a
37	chr12:123012351-123012401	PrEC	prostate:	n/a
38	chr12:123077350-123077400	AoSMC	blood vessel:	n/a
39	chr12:122985348-122985398	Caco-2	colon:	n/a
40	chr12:123009494-123009544	HRCEpiC	kidney:	n/a
41	chr12:122985803-122985853	NB4	blood:	n/a
42	chr12:122985643-122985693	NB4	blood:	n/a
43	chr12:123011691-123011741	Hepatocyte	liver:	n/a
44	chr12:123011757-123011807	HUVEC	blood vessel:	n/a
45	chr12:123011533-123011583	GM12878	blood:	n/a
46	chr12:122985592-122985642	HCPEpiC	choroid plexus:	n/a
47	chr12:123011833-123011883	AG04450	lung:	fetal
48	chr12:123011833-123011883	LNCaP	prostate:	n/a
49	chr12:122986464-122986514	PFSK-1	brain:	n/a
50	chr12:123011310-123011360	BJ	skin:	n/a

(count:148 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
2	chr12:123013745..123015301-chr12:123046415..123049313,2	K562	blood:
3	chr1:161102012..161102644-chr12:123011044..123011725,2	Hela-S3	cervix:
4	chr12:122985118..122985687-chr12:123011078..123011604,2	Hela-S3	cervix:
5	chr12:123011230..123012154-chr17:37025913..37026423,2	Hela-S3	cervix:
6	chr12:123010821..123011445-chr14:23235873..23236659,2	Hela-S3	cervix:
7	chr10:35415246..35416106-chr12:122984953..122985731,2	Hela-S3	cervix:
8	chr12:123011138..123011746-chr6:100016019..100016983,2	Hela-S3	cervix:
9	chr12:123010320..123012822-chr19:11200189..11202777,2	K562	blood:
10	chr12:123010820..123011777-chr5:43483665..43484185,2	Hela-S3	cervix:
11	chr12:122966266..122967783-chr12:123009497..123012466,2	MCF-7	breast:
12	chr12:123018583..123020922-chr12:123025836..123027739,2	MCF-7	breast:
13	chr12:122986382..122988482-chr12:122989690..122991321,2	MCF-7	breast:
14	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
15	chr12:123027377..123029468-chr12:123032160..123034262,2	K562	blood:
16	chr12:123011130..123011798-chr7:27778729..27779635,2	Hela-S3	cervix:
17	chr11:47270344..47270968-chr12:122985118..122985954,2	Hela-S3	cervix:
18	chr12:122985077..122986688-chr12:122994041..122995637,2	MCF-7	breast:
19	chr12:51477140..51477814-chr12:123011264..123011766,2	Hela-S3	cervix:
20	chr12:123067260..123069084-chr12:123070709..123072240,2	MCF-7	breast:
21	chr12:123010275..123013969-chr12:123021374..123025074,7	MCF-7	breast:
22	chr12:122984954..122985618-chr14:50087101..50087861,2	Hela-S3	cervix:
23	chr12:122963976..122966781-chr12:123007463..123009928,2	K562	blood:
24	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
25	chr12:123009242..123011639-chr12:123463173..123465225,2	K562	blood:
26	chr12:123010775..123011709-chr16:75285031..75285546,2	Hela-S3	cervix:
27	chr12:123011046..123011728-chr3:156543598..156544566,2	NB4	blood:
28	chr11:62608621..62609696-chr12:123011063..123011894,4	NB4	blood:
29	chr12:122882610..122885113-chr12:122985473..122987082,2	K562	blood:
30	chr12:122237927..122238753-chr12:122985007..122985749,2	Hela-S3	cervix:
31	chr12:123011094..123011689-chr16:77225072..77225582,2	Hela-S3	cervix:
32	chr12:122870927..122872721-chr12:122995399..122997212,2	K562	blood:
33	chr1:36689861..36690439-chr12:123011903..123012751,2	Hela-S3	cervix:
34	chr12:123051329..123054245-chr12:123055690..123057481,2	K562	blood:
35	chr1:28974869..28976076-chr12:123010565..123012157,4	Hela-S3	cervix:
36	chr12:123011142..123011668-chr17:685150..686013,2	Hela-S3	cervix:
37	chr12:123011261..123011859-chr6:26216873..26217512,2	Hela-S3	cervix:
38	chr12:123010389..123015880-chr12:123040231..123043851,6	K562	blood:
39	chr12:123067260..123069084-chr12:123070709..123072240,2	MCF-7	breast:
40	chr12:123081134..123084093-chr12:123088204..123090848,2	MCF-7	breast:
41	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
42	chr1:149858284..149858896-chr12:122985020..122985703,2	NB4	blood:
43	chr12:123011807..123016958-chr12:123025504..123030876,9	K562	blood:
44	chr12:122884193..122884707-chr12:122985109..122985919,2	K562	blood:
45	chr1:45186994..45187722-chr12:122985022..122985930,2	Hela-S3	cervix:
46	chr12:123081153..123083342-chr12:123085187..123087941,2	K562	blood:
47	chr12:123022255..123025463-chr12:123027947..123030423,3	MCF-7	breast:
48	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
49	chr12:122884270..122886424-chr12:123011596..123013122,2	MCF-7	breast:
50	chr12:123004549..123007119-chr12:123070735..123073500,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RSRC2	hsa-miR-197-3p	chr12:122989445-122989466
2	RSRC2	hsa-miR-186-5p	chr12:122989679-122989701
3	RSRC2	hsa-miR-186-5p	chr12:122989842-122989865
4	RSRC2	hsa-miR-26b-5p	chr12:122989869-122989889

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000255972	TF binding region
RSRC2	TF binding region
KNTC1	TF binding region
ZCCHC8	CpG island
ENSG00000255972	CpG island
RSRC2	CpG island
KNTC1	CpG island
ENSG00000168214	chromatin interactions
ENSG00000137509	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000130779	chromatin interactions
ENSG00000233493	chromatin interactions
ENSG00000252192	chromatin interactions
ENSG00000272092	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000147548	chromatin interactions
ENSG00000265345	chromatin interactions
ENSG00000049656	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000084733	chromatin interactions
ENSG00000259431	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000002834	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000197980	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000135378	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000157306	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000165502	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000054118	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000257815	chromatin interactions
ENSG00000110031	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000136367	chromatin interactions
ENSG00000212237	chromatin interactions
ENSG00000168282	chromatin interactions
ENSG00000256861	chromatin interactions
ENSG00000112237	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000167699	chromatin interactions
ENSG00000161980	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000125971	chromatin interactions
ENSG00000255972	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000189143	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000178075	chromatin interactions
ENSG00000168404	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000165490	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000214760	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000171861	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000139719	chromatin interactions
ENSG00000103111	chromatin interactions
ENSG00000249740	chromatin interactions
ENSG00000257097	chromatin interactions
ENSG00000132825	chromatin interactions
ENSG00000196227	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000130164	chromatin interactions
ENSG00000113194	chromatin interactions
ENSG00000155463	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000140455	chromatin interactions
ENSG00000111596	chromatin interactions
ENSG00000130299	chromatin interactions

Extended variants
information (count: 4308 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:4308 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473553	chr12:122985057-122985058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570466525	chr12:122985062-122985063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
3	rs148023340	chr12:122985113-122985114	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
4	rs192383374	chr12:122985115-122985116	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
5	rs12226908	chr12:122985130-122985131	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
6	rs550124377	chr12:122985133-122985134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
7	rs182430647	chr12:122985145-122985146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
8	rs35629536	chr12:122985156-122985157	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
9	rs376354359	chr12:122985171-122985172	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
10	rs368512751	chr12:122985248-122985249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
11	rs535714318	chr12:122985279-122985280	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
12	rs372566097	chr12:122985313-122985314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
13	rs375493553	chr12:122985344-122985345	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
14	rs369490516	chr12:122985347-122985348	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
15	rs554018062	chr12:122985359-122985360	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
16	rs568917225	chr12:122985383-122985384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
17	rs565690149	chr12:122985459-122985460	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
18	rs574699318	chr12:122985497-122985498	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
19	rs539968461	chr12:122985593-122985594	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
20	rs7296680	chr12:122985598-122985599	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186016420	chr12:122985616-122985617	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs143530635	chr12:122985626-122985627	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
23	rs77148361	chr12:122985628-122985629	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
24	rs116440129	chr12:122985643-122985644	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
25	rs146783942	chr12:122985708-122985709	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs7132364	chr12:122985755-122985756	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369850182	chr12:122985805-122985806	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs533354846	chr12:122985822-122985823	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs532681321	chr12:122985842-122985843	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs190885045	chr12:122985853-122985854	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs148516653	chr12:122985886-122985887	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs77725673	chr12:122986030-122986031	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs549814681	chr12:122986087-122986088	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs568018518	chr12:122986135-122986136	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs529204918	chr12:122986153-122986154	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs182509410	chr12:122986171-122986172	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs565905908	chr12:122986178-122986179	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs539235513	chr12:122986179-122986180	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs11058435	chr12:122986206-122986207	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545814490	chr12:122986230-122986231	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs4356269	chr12:122986267-122986268	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs578007496	chr12:122986289-122986290	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs537110464	chr12:122986322-122986323	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs574417388	chr12:122986370-122986371	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs555347953	chr12:122986374-122986375	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs531300190	chr12:122986375-122986376	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs78111011	chr12:122986393-122986394	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs541367683	chr12:122986524-122986525	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs11615830	chr12:122986534-122986535	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35330435	chr12:122986623-122986624	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3135 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122982200-122985600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:122982200-122985800	Active TSS	GM12878-XiMat	blood
3	chr12:122982600-122985800	Active TSS	K562	blood
4	chr12:122982800-122985800	Active TSS	HSMMtube	muscle
5	chr12:122982800-122986000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:122983000-122985600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:122983000-122985800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:122983400-122985600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:122983400-122985800	Active TSS	Psoas Muscle	Psoas
10	chr12:122983600-122985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:122983600-122985800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:122983600-122985800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:122983600-122985800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:122983600-122985800	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:122983600-122985800	Active TSS	A549	lung
16	chr12:122983600-122985800	Active TSS	NH-A	brain
17	chr12:122983600-122986000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:122983600-122986000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:122983600-122986000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:122983600-122986000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:122983600-122986000	Active TSS	Brain Germinal Matrix	brain
22	chr12:122983600-122986000	Active TSS	HSMM	muscle
23	chr12:122983600-122986200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:122983800-122985600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:122983800-122985800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:122983800-122985800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:122983800-122985800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:122983800-122985800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:122983800-122985800	Active TSS	Hela-S3	cervix
30	chr12:122983800-122985800	Active TSS	NHDF-Ad	bronchial
31	chr12:122983800-122986000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:122983800-122986000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:122983800-122986000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:122983800-122986000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:122983800-122986000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:122983800-122986000	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:122983800-122986000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:122983800-122986000	Active TSS	HMEC	breast
39	chr12:122983800-122986200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:122983800-122986200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:122983800-122986200	Active TSS	Fetal Lung	lung
42	chr12:122983800-122986200	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:122983800-122986200	Active TSS	Osteobl	bone
44	chr12:122984000-122985600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:122984000-122985600	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:122984000-122985800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:122984000-122985800	Active TSS	Colonic Mucosa	Colon
48	chr12:122984000-122985800	Active TSS	Fetal Intestine Small	intestine
49	chr12:122984000-122985800	Active TSS	NHEK	skin
50	chr12:122984000-122986000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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