Variant report

Variant	nsv819597
Chromosome Location	chr12:57868561-57870210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:57869928-57870361	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:57869906-57870355	GM12878	blood:	n/a	n/a
3	BCLAF1	chr12:57869991-57870451	GM12878	blood:	n/a	chr12:57870072-57870085 chr12:57870070-57870083
4	BHLHE40	chr12:57869640-57869991	HepG2	liver:	n/a	n/a
5	BHLHE40	chr12:57869531-57870501	GM12878	blood:	n/a	chr12:57870064-57870080
6	BRCA1	chr12:57870082-57870195	GM12878	blood:	n/a	n/a
7	CHD1	chr12:57869643-57869794	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr12:57869717-57870571	GM12878	blood:	n/a	n/a
9	CHD2	chr12:57869961-57870301	GM12878	blood:	n/a	n/a
10	CTBP2	chr12:57869110-57870427	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:57869756-57869868	Fibrobl	skin:	n/a	n/a
12	CTCF	chr12:57869787-57869883	GM10266	blood:	n/a	n/a
13	CTCF	chr12:57870039-57870196	Fibrobl	skin:	n/a	n/a
14	CTCF	chr12:57870047-57870265	GM10248	blood:	n/a	n/a
15	CTCF	chr12:57869694-57870571	GM12878	blood:	n/a	n/a
16	CTCF	chr12:57870040-57870190	AG09319	gingival:	n/a	n/a
17	CTCF	chr12:57870200-57870350	GM12801	blood:	n/a	n/a
18	CTCF	chr12:57870000-57870501	GM12878	blood:	n/a	n/a
19	CTCF	chr12:57870042-57870231	IMR90	lung:	n/a	n/a
20	CTCF	chr12:57870060-57870210	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr12:57870080-57870230	HMEC	breast:	n/a	n/a
22	CTCF	chr12:57869980-57870130	A549	lung:	n/a	n/a
23	CTCF	chr12:57870107-57870177	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:57870100-57870250	HCM	heart:	n/a	n/a
25	CTCF	chr12:57869780-57869930	GM12875	blood:	n/a	n/a
26	CTCF	chr12:57870080-57870230	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr12:57869860-57870010	HMEC	breast:	n/a	n/a
28	CTCF	chr12:57870040-57870190	SAEC	small airway:	n/a	n/a
29	CTCF	chr12:57870080-57870230	AG04450	lung:	n/a	n/a
30	CTCF	chr12:57870080-57870230	GM12872	blood:	n/a	n/a
31	CTCF	chr12:57869624-57870523	GM12891	blood:	n/a	n/a
32	CTCF	chr12:57869793-57869924	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:57870200-57870350	GM12872	blood:	n/a	n/a
34	CTCF	chr12:57869720-57869870	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr12:57870110-57870192	A549	lung:	n/a	n/a
36	CTCF	chr12:57870080-57870230	AG04449	skin:	n/a	n/a
37	CTCF	chr12:57870160-57870310	BE2_C	brain:	n/a	n/a
38	CTCF	chr12:57869715-57870530	GM12892	blood:	n/a	n/a
39	CTCF	chr12:57869685-57870539	GM19238	blood:	n/a	n/a
40	CTCF	chr12:57870040-57870190	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr12:57870120-57870270	GM12867	blood:	n/a	n/a
42	CTCF	chr12:57870171-57870174	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:57870059-57870257	GM20000	blood:	n/a	n/a
44	CTCF	chr12:57870120-57870270	GM12869	blood:	n/a	n/a
45	CTCF	chr12:57870000-57870150	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:57870000-57870150	BJ	skin:	n/a	n/a
47	CTCF	chr12:57869940-57870090	HFF	foreskin:	n/a	n/a
48	CTCF	chr12:57870100-57870250	GM12869	blood:	n/a	n/a
49	CTCF	chr12:57870100-57870250	GM12865	blood:	n/a	n/a
50	CTCF	chr12:57870020-57870170	NB4	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57869490-57869540	HNPCEpiC	eye:	n/a
2	chr12:57869941-57869991	SK-N-SH_RA	brain:	n/a
3	chr12:57869490-57869540	GM06990	blood:	n/a
4	chr12:57869941-57869991	ProgFib	skin:	n/a
5	chr12:57870181-57870231	Hepatocyte	liver:	n/a
6	chr12:57869941-57869991	HNPCEpiC	eye:	n/a
7	chr12:57869421-57869471	GM12891	blood:	n/a
8	chr12:57869031-57869081	Hepatocyte	liver:	n/a
9	chr12:57870181-57870231	LNCaP	prostate:	n/a
10	chr12:57869490-57869540	PrEC	prostate:	n/a
11	chr12:57869031-57869081	SK-N-MC	brain:	n/a
12	chr12:57869421-57869471	NB4	blood:	n/a
13	chr12:57869941-57869991	AG09309	skin:	n/a
14	chr12:57869941-57869991	HEEpiC	esophagus:	n/a
15	chr12:57869421-57869471	IMR90	lung:	fetal
16	chr12:57869421-57869471	SKMC	muscle:	n/a
17	chr12:57869421-57869471	NHDF-neo	bronchial:	n/a
18	chr12:57870181-57870231	HIPEpiC	eye:	n/a
19	chr12:57869031-57869081	LNCaP	prostate:	n/a
20	chr12:57869031-57869081	Hela-S3	cervix:	n/a
21	chr12:57869490-57869540	BJ	skin:	n/a
22	chr12:57869941-57869991	HUVEC	blood vessel:	n/a
23	chr12:57869490-57869540	HCF	heart:	n/a
24	chr12:57869490-57869540	HEEpiC	esophagus:	n/a
25	chr12:57870181-57870231	AG04449	skin:	fetal
26	chr12:57869490-57869540	ProgFib	skin:	n/a
27	chr12:57869941-57869991	NH-A	brain:	n/a
28	chr12:57869031-57869081	HRCEpiC	kidney:	n/a
29	chr12:57869031-57869081	U87	brain:	n/a
30	chr12:57870181-57870231	SAEC	small airway:	n/a
31	chr12:57869941-57869991	NB4	blood:	n/a
32	chr12:57869941-57869991	HCPEpiC	choroid plexus:	n/a
33	chr12:57869031-57869081	HCT-116	colon:	n/a
34	chr12:57869490-57869540	MCF-7	breast:	n/a
35	chr12:57870181-57870231	GM12891	blood:	n/a
36	chr12:57870181-57870231	NHBE	bronchial:	n/a
37	chr12:57869031-57869081	AG04450	lung:	fetal
38	chr12:57869941-57869991	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:57870181-57870231	ProgFib	skin:	n/a
40	chr12:57869941-57869991	AG09319	gingival:	n/a
41	chr12:57870181-57870231	T-47D	breast:	n/a
42	chr12:57869031-57869081	HIPEpiC	eye:	n/a
43	chr12:57869031-57869081	MCF-7	breast:	n/a
44	chr12:57869490-57869540	SK-N-SH_RA	brain:	n/a
45	chr12:57869031-57869081	NB4	blood:	n/a
46	chr12:57869421-57869471	AG04450	lung:	fetal
47	chr12:57869421-57869471	GM12878	blood:	n/a
48	chr12:57869490-57869540	U87	brain:	n/a
49	chr12:57869421-57869471	MCF-7	breast:	n/a
50	chr12:57869421-57869471	AG09309	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57866650..57869717-chr12:57880833..57883787,3	MCF-7	breast:
2	chr12:57864629..57868923-chr12:57913251..57916366,4	K562	blood:
3	chr12:57869564..57871597-chr12:57983396..57986014,2	K562	blood:
4	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:
5	chr12:57869556..57871935-chr12:57881103..57884583,3	K562	blood:

No data

Variant related genes	Relation type
MARS	TF binding region
ARHGAP9	TF binding region
MARS	CpG island
ARHGAP9	CpG island
ENSG00000175197	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000166986	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376277809	chr12:57868567-57868568	Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs115071370	chr12:57868601-57868602	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs112671297	chr12:57868628-57868629	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs201097332	chr12:57868645-57868646	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs374366947	chr12:57868649-57868650	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs112133601	chr12:57868673-57868674	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs35105444	chr12:57868697-57868698	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs370660961	chr12:57868720-57868721	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs368828844	chr12:57868776-57868777	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs548301559	chr12:57868793-57868794	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs12820256	chr12:57868819-57868820	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs12820264	chr12:57868829-57868830	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs563411616	chr12:57868832-57868833	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs530827072	chr12:57868847-57868848	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs552244987	chr12:57868862-57868863	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs571126001	chr12:57868879-57868880	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs12821831	chr12:57868884-57868885	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs12820647	chr12:57868962-57868963	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs191828785	chr12:57868982-57868983	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs547261969	chr12:57869013-57869014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs372082509	chr12:57869033-57869034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs143954280	chr12:57869151-57869152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs568703694	chr12:57869153-57869154	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs147304445	chr12:57869159-57869160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs148784244	chr12:57869169-57869170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs375444755	chr12:57869187-57869188	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs182771361	chr12:57869195-57869196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs372576936	chr12:57869201-57869202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs568938401	chr12:57869218-57869219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs555850731	chr12:57869234-57869235	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs527226	chr12:57869241-57869242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575031451	chr12:57869259-57869260	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs369398863	chr12:57869262-57869263	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs373618746	chr12:57869296-57869297	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs572796333	chr12:57869304-57869305	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs540201121	chr12:57869373-57869374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs376850098	chr12:57869392-57869393	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs2277318	chr12:57869447-57869448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2277317	chr12:57869476-57869477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs543966734	chr12:57869478-57869479	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs2277316	chr12:57869486-57869487	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs530859975	chr12:57869490-57869491	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs524522	chr12:57869500-57869501	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs564363769	chr12:57869513-57869514	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs3216740	chr12:57869531-57869532	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs528470415	chr12:57869534-57869535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs547004745	chr12:57869543-57869544	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs2277315	chr12:57869582-57869583	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs377740614	chr12:57869591-57869592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs529527246	chr12:57869597-57869598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57857000-57869400	Weak transcription	Ovary	ovary
2	chr12:57859600-57870800	Weak transcription	A549	lung
3	chr12:57861200-57868600	Strong transcription	Fetal Thymus	thymus
4	chr12:57861400-57868600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:57861800-57869600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:57862800-57869400	Genic enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:57862800-57870400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
8	chr12:57863000-57869000	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:57863200-57869400	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr12:57863400-57868800	Weak transcription	Lung	lung
11	chr12:57863400-57869000	Weak transcription	Pancreas	Pancrea
12	chr12:57864000-57869400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:57864200-57868600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:57864200-57869200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:57864600-57868600	Weak transcription	Liver	Liver
16	chr12:57864600-57869000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:57864600-57869200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:57864800-57869400	Weak transcription	Gastric	stomach
19	chr12:57864800-57869600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:57865200-57869400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:57865600-57869200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:57865600-57869600	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr12:57865800-57868600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:57866000-57869600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:57866200-57869400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:57866200-57869600	Genic enhancers	Primary T cells from cord blood	blood
27	chr12:57866600-57869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:57867800-57869000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
29	chr12:57868000-57868800	Enhancers	K562	blood
30	chr12:57868000-57869000	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr12:57868000-57869200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:57868000-57869400	Genic enhancers	GM12878-XiMat	blood
33	chr12:57868200-57868600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr12:57868200-57869000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
35	chr12:57868200-57869000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
36	chr12:57868200-57869000	Bivalent Enhancer	Small Intestine	intestine
37	chr12:57868200-57869400	Genic enhancers	Spleen	Spleen
38	chr12:57868200-57869600	Genic enhancers	Thymus	Thymus
39	chr12:57868400-57868600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr12:57868400-57869000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:57868400-57869200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:57868400-57869200	Strong transcription	Dnd41	blood
43	chr12:57868400-57869400	Bivalent Enhancer	Placenta	Placenta
44	chr12:57868400-57869600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:57868600-57868800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr12:57868600-57868800	Enhancers	Liver	Liver
47	chr12:57868600-57868800	Bivalent Enhancer	Fetal Brain Female	brain
48	chr12:57868600-57868800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr12:57868600-57869000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr12:57868600-57869000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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