Variant report

Variant	rs2286029
Chromosome Location	chr12:1015631-1015632
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1014966-1015783	HepG2	liver:	n/a	n/a
2	MAX	chr12:1014686-1015734	NB4	blood:	n/a	chr12:1015375-1015394 chr12:1015380-1015387
3	FOXP2	chr12:1015352-1015655	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:1015512-1015704	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:1014443-1015732	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:1014608-1015773	HL-60	blood:	n/a	n/a
7	POLR2A	chr12:1014723-1015834	HL-60	blood:	n/a	n/a
8	POLR2A	chr12:1014385-1015890	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:1015491-1015644	K562	blood:	n/a	n/a
10	POLR2A	chr12:1014488-1015967	HepG2	liver:	n/a	n/a
11	MYC	chr12:1014787-1015769	NB4	blood:	n/a	chr12:1015375-1015394 chr12:1015380-1015387
12	POLR2A	chr12:1015201-1015645	GM12878	blood:	n/a	n/a
13	SPI1	chr12:1014631-1015811	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1011965..1016701-chr12:1017001..1021007,7	K562	blood:
2	chr12:1008526..1010244-chr12:1013943..1016449,2	K562	blood:
3	chr12:1014162..1017622-chr12:1021413..1026114,4	K562	blood:
4	chr12:1005428..1007462-chr12:1013958..1015805,2	K562	blood:
5	chr12:1011675..1016122-chr12:1018154..1021007,6	K562	blood:
6	chr12:1014378..1016436-chr12:1021383..1023969,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERC1-3	chr12:1011722-1016190	NONHSAT025371

No data

Variant related genes	Relation type
WNK1	TF binding region
ENSG00000060237	Chromatin interaction
ENSG00000002016	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10744729	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849578	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849584	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064580	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064585	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11064593	0.96[ASN][1000 genomes]
rs11226	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11571409	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11571448	0.94[ASN][1000 genomes]
rs11611051	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614499	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12581940	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255390	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269937	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3748521	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766370	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4980974	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6413436	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7296555	0.94[ASN][1000 genomes]
rs7300444	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7300718	0.96[ASN][1000 genomes]
rs7301931	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303748	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308979	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7310449	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964502	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs953361	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
11	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
15	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
16	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv1053198	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv541341	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv1041675	chr12:993822-1091354	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
23	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:982200-1027000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:986800-1028400	Strong transcription	Placenta	Placenta
7	chr12:987000-1017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:987000-1020800	Strong transcription	Adipose Nuclei	Adipose
9	chr12:987000-1022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:987000-1023600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:987000-1028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
14	chr12:987200-1024400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:987200-1024400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:988800-1023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:989400-1028400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:995200-1025800	Weak transcription	Stomach Mucosa	stomach
21	chr12:1001400-1024400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:1001800-1028200	Strong transcription	HepG2	liver
23	chr12:1003000-1024400	Strong transcription	Primary B cells from cord blood	blood
24	chr12:1003400-1023200	Strong transcription	Dnd41	blood
25	chr12:1003400-1024600	Strong transcription	HMEC	breast
26	chr12:1003600-1028000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:1003600-1028200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr12:1003600-1028400	Strong transcription	NHDF-Ad	bronchial
29	chr12:1004200-1027200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:1004800-1018400	Strong transcription	Right Ventricle	heart
32	chr12:1004800-1019000	Strong transcription	Fetal Stomach	stomach
33	chr12:1004800-1019400	Strong transcription	Esophagus	oesophagus
34	chr12:1004800-1020600	Strong transcription	Left Ventricle	heart
35	chr12:1004800-1022800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
37	chr12:1005000-1019600	Strong transcription	Fetal Brain Female	brain
38	chr12:1005000-1028000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:1005200-1018000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:1005200-1028800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr12:1005600-1020800	Weak transcription	Right Atrium	heart
42	chr12:1006000-1026400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:1006200-1023000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:1006600-1028200	Strong transcription	HSMMtube	muscle
45	chr12:1006800-1022800	Strong transcription	HSMM	muscle
46	chr12:1007000-1022600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:1007000-1028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:1007400-1022800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:1007600-1018800	Strong transcription	A549	lung
50	chr12:1007600-1022800	Strong transcription	Muscle Satellite Cultured Cells	--

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