Variant report

Variant	esv3331641
Chromosome Location	chr12:124456249-124458547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:722)
CpG islands
(count:549)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:124457436-124457478	K562	blood:	n/a	n/a
3	ARID3A	chr12:124457266-124457559	HepG2	liver:	n/a	n/a
4	ATF2	chr12:124456208-124456743	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:124456182-124456662	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr12:124457636-124457891	K562	blood:	n/a	n/a
7	BACH1	chr12:124458481-124458670	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr12:124456382-124456621	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr12:124457128-124457530	GM12878	blood:	n/a	chr12:124457392-124457401 chr12:124457453-124457466 chr12:124457384-124457397
10	BHLHE40	chr12:124457342-124457972	HepG2	liver:	n/a	n/a
11	BHLHE40	chr12:124457328-124457920	K562	blood:	n/a	n/a
12	BHLHE40	chr12:124457751-124457861	A549	lung:	n/a	n/a
13	BHLHE40	chr12:124457321-124457936	GM12878	blood:	n/a	n/a
14	BRCA1	chr12:124457325-124457396	HepG2	liver:	n/a	n/a
15	BRCA1	chr12:124457402-124457544	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr12:124456410-124458750	K562	blood:	n/a	chr12:124457953-124457962 chr12:124457619-124457628
17	CEBPB	chr12:124457282-124457522	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr12:124457154-124457926	HepG2	liver:	n/a	n/a
19	CEBPD	chr12:124456930-124458037	HepG2	liver:	n/a	n/a
20	CHD1	chr12:124458249-124458876	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr12:124458429-124458582	GM12878	blood:	n/a	n/a
22	CHD2	chr12:124457754-124457774	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr12:124456875-124458256	Hela-S3	cervix:	n/a	chr12:124457570-124457580
24	CHD2	chr12:124457264-124457855	GM12878	blood:	n/a	chr12:124457570-124457580
25	CHD2	chr12:124458489-124458750	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr12:124457386-124457586	K562	blood:	n/a	chr12:124457570-124457580
27	CHD2	chr12:124457534-124457539	HepG2	liver:	n/a	n/a
28	CREB1	chr12:124456334-124456664	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr12:124456254-124456651	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr12:124456892-124458105	HepG2	liver:	n/a	n/a
31	CREB1	chr12:124456839-124457955	A549	lung:	n/a	n/a
32	CTBP2	chr12:124456277-124456852	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:124457120-124457270	GM12870	blood:	n/a	n/a
34	CTCF	chr12:124457340-124457490	AG09319	gingival:	n/a	chr12:124457429-124457445
35	CTCF	chr12:124457260-124457410	GM12867	blood:	n/a	n/a
36	CTCF	chr12:124458460-124458610	Caco-2	colon:	n/a	n/a
37	CTCF	chr12:124457320-124457470	HCT-116	colon:	n/a	chr12:124457429-124457445
38	CTCF	chr12:124457360-124457510	SK-N-SH_RA	brain:	n/a	chr12:124457429-124457445
39	CTCF	chr12:124458520-124458670	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:124457337-124457545	GM12891	blood:	n/a	chr12:124457429-124457445
41	CTCF	chr12:124457360-124457510	K562	blood:	n/a	chr12:124457429-124457445
42	CTCF	chr12:124457380-124457530	AG09319	gingival:	n/a	chr12:124457429-124457445
43	CTCF	chr12:124457460-124457610	HVMF	connective:	n/a	n/a
44	CTCF	chr12:124458520-124458670	GM12865	blood:	n/a	n/a
45	CTCF	chr12:124457380-124457530	WERI-Rb-1	eye:	n/a	chr12:124457429-124457445
46	CTCF	chr12:124457440-124457590	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:124457370-124457523	Medullo	brain:	n/a	chr12:124457429-124457445
48	CTCF	chr12:124457320-124457470	HBMEC	blood vessel:	n/a	chr12:124457429-124457445
49	CTCF	chr12:124457380-124457530	BJ	skin:	n/a	chr12:124457429-124457445
50	CTCF	chr12:124457223-124457631	GM12878	blood:	n/a	chr12:124457429-124457445

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124458211-124458261	U87	brain:	n/a
2	chr12:124457418-124457468	AG10803	skin:	n/a
3	chr12:124456542-124456592	HMEC	breast:	n/a
4	chr12:124458211-124458261	AG10803	skin:	n/a
5	chr12:124458442-124458492	AG10803	skin:	n/a
6	chr12:124457431-124457481	GM12878	blood:	n/a
7	chr12:124456591-124456641	RPTEC	kidney:	n/a
8	chr12:124457083-124457133	HUVEC	blood vessel:	n/a
9	chr12:124457083-124457133	HNPCEpiC	eye:	n/a
10	chr12:124456542-124456592	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:124457083-124457133	HRCEpiC	kidney:	n/a
12	chr12:124456591-124456641	HIPEpiC	eye:	n/a
13	chr12:124456542-124456592	SAEC	small airway:	n/a
14	chr12:124457083-124457133	AG04449	skin:	fetal
15	chr12:124456542-124456592	RPTEC	kidney:	n/a
16	chr12:124456542-124456592	NT2-D1	testis:	n/a
17	chr12:124458442-124458492	HRE	kidney:	n/a
18	chr12:124457418-124457468	SKMC	muscle:	n/a
19	chr12:124456591-124456641	GM12878	blood:	n/a
20	chr12:124457418-124457468	NB4	blood:	n/a
21	chr12:124458211-124458261	HRPEpiC	eye:	n/a
22	chr12:124457431-124457481	PANC-1	pancreas:	n/a
23	chr12:124457083-124457133	IMR90	lung:	fetal
24	chr12:124458211-124458261	RPTEC	kidney:	n/a
25	chr12:124457431-124457481	K562	blood:	n/a
26	chr12:124456542-124456592	AG09319	gingival:	n/a
27	chr12:124456591-124456641	HCPEpiC	choroid plexus:	n/a
28	chr12:124457941-124457991	HCM	heart:	n/a
29	chr12:124457083-124457133	RPTEC	kidney:	n/a
30	chr12:124457418-124457468	PFSK-1	brain:	n/a
31	chr12:124456591-124456641	T-47D	breast:	n/a
32	chr12:124457669-124457719	ECC-1	luminal epithelium:	n/a
33	chr12:124457941-124457991	GM06990	blood:	n/a
34	chr12:124458442-124458492	GM12892	blood:	n/a
35	chr12:124456591-124456641	ECC-1	luminal epithelium:	n/a
36	chr12:124457083-124457133	H1-hESC	embryonic stem cell:	embryo
37	chr12:124458211-124458261	ECC-1	luminal epithelium:	n/a
38	chr12:124457418-124457468	AG09319	gingival:	n/a
39	chr12:124458442-124458492	NT2-D1	testis:	n/a
40	chr12:124457941-124457991	SK-N-SH	brain:	n/a
41	chr12:124457669-124457719	PrEC	prostate:	n/a
42	chr12:124457418-124457468	HMEC	breast:	n/a
43	chr12:124456591-124456641	HCT-116	colon:	n/a
44	chr12:124458211-124458261	ovcar-3	ovarian:	n/a
45	chr12:124457418-124457468	MCF-7	breast:	n/a
46	chr12:124458442-124458492	T-47D	breast:	n/a
47	chr12:124458442-124458492	HUVEC	blood vessel:	n/a
48	chr12:124457083-124457133	HCM	heart:	n/a
49	chr12:124458442-124458492	NHBE	bronchial:	n/a
50	chr12:124457418-124457468	NT2-D1	testis:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
2	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
3	chr12:57081777..57082538-chr12:124457598..124458129,2	HCT-116	colon:
4	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
5	chr12:124419696..124421587-chr12:124455495..124458360,2	MCF-7	breast:
6	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
7	chr12:124456109..124458010-chr17:60780590..60782745,2	MCF-7	breast:
8	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
9	chr12:124456565..124458963-chr17:72427263..72429561,2	MCF-7	breast:
10	chr12:124457291..124457854-chr14:70233492..70234347,2	Hela-S3	cervix:
11	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
12	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
13	chr12:124426853..124428789-chr12:124454676..124457058,3	K562	blood:
14	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
15	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
16	chr12:124457010..124457552-chr3:194353833..194354573,2	Hela-S3	cervix:
17	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-8	chr12:124456004-124456261	ENSG00000270095.1

No data

Variant related genes	Relation type
FAM101A	TF binding region
CCDC92	TF binding region
ZNF664	TF binding region
ENSG00000270095	TF binding region
ENSG00000269938	TF binding region
ENSG00000270061	TF binding region
FAM101A	CpG island
CCDC92	CpG island
ZNF664	CpG island
ENSG00000270095	CpG island
ENSG00000269938	CpG island
ENSG00000270061	CpG island
ENSG00000197653	chromatin interactions
ENSG00000270005	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000139266	chromatin interactions
ENSG00000145014	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000269997	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000270048	chromatin interactions
ENSG00000269938	chromatin interactions
ENSG00000270130	chromatin interactions
ENSG00000170412	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000173838	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552379640	chr12:124456276-124456277	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs77590030	chr12:124456309-124456310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs537975196	chr12:124456330-124456331	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs556203659	chr12:124456342-124456343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs137988893	chr12:124456344-124456345	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs535410397	chr12:124456376-124456377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs112526276	chr12:124456407-124456408	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs572838550	chr12:124456417-124456418	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs374552601	chr12:124456424-124456425	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs530600942	chr12:124456428-124456429	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs552002605	chr12:124456438-124456439	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs374749405	chr12:124456440-124456441	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs36037304	chr12:124456441-124456442	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs548619552	chr12:124456455-124456456	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs368336005	chr12:124456458-124456459	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs568742055	chr12:124456496-124456497	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs534477102	chr12:124456537-124456538	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs111345807	chr12:124456585-124456586	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs543982408	chr12:124456587-124456588	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs192774795	chr12:124456617-124456618	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs373685442	chr12:124456651-124456652	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs541888847	chr12:124456662-124456663	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs570949921	chr12:124456691-124456692	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs540074267	chr12:124456695-124456696	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs555385847	chr12:124456730-124456731	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs112377455	chr12:124456747-124456748	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs531889889	chr12:124456771-124456772	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs549863833	chr12:124456772-124456773	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs371309490	chr12:124456834-124456835	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs535543212	chr12:124456923-124456924	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs547417850	chr12:124456940-124456941	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs372594519	chr12:124456947-124456948	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs572098534	chr12:124456948-124456949	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs566039549	chr12:124456986-124456987	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs373906852	chr12:124457094-124457095	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs541047413	chr12:124457110-124457111	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs189119902	chr12:124457144-124457145	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs576967726	chr12:124457146-124457147	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs577820656	chr12:124457169-124457170	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs192451380	chr12:124457223-124457224	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs113980922	chr12:124457249-124457250	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs556385449	chr12:124457489-124457490	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs574620043	chr12:124457566-124457567	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs541923697	chr12:124457619-124457620	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs113731090	chr12:124457662-124457663	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs112407695	chr12:124457663-124457664	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs184549922	chr12:124457711-124457712	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs560211597	chr12:124457777-124457778	Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs111949870	chr12:124457913-124457914	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs12823740	chr12:124458002-124458003	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124457400	Active TSS	Right Atrium	heart
2	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:124455000-124456400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
6	chr12:124455600-124456400	Active TSS	Fetal Brain Female	brain
7	chr12:124455600-124456800	Active TSS	Brain Germinal Matrix	brain
8	chr12:124455600-124458600	Active TSS	Osteobl	bone
9	chr12:124455600-124458800	Active TSS	HMEC	breast
10	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
13	chr12:124455800-124456400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:124455800-124456400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:124455800-124456400	Flanking Active TSS	NHEK	skin
16	chr12:124455800-124456600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:124455800-124456600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:124455800-124456600	Flanking Active TSS	HUVEC	blood vessel
19	chr12:124455800-124456800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:124455800-124456800	Flanking Active TSS	Liver	Liver
21	chr12:124455800-124457000	Active TSS	Stomach Mucosa	stomach
22	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
23	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
28	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
30	chr12:124456000-124456400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:124456000-124456400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:124456000-124456400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr12:124456000-124456400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr12:124456000-124456400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr12:124456000-124456400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:124456000-124456400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr12:124456000-124456400	Flanking Active TSS	Fetal Lung	lung
38	chr12:124456000-124456400	Flanking Active TSS	Fetal Stomach	stomach
39	chr12:124456000-124456400	Flanking Active TSS	HSMMtube	muscle
40	chr12:124456000-124456600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:124456000-124456600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:124456000-124456600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:124456000-124456600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:124456000-124456600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:124456000-124456600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:124456000-124456600	Flanking Active TSS	Hela-S3	cervix
47	chr12:124456000-124456600	Flanking Active TSS	K562	blood
48	chr12:124456000-124456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:124456000-124456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:124456000-124456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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