Variant report

Variant	rs7980163
Chromosome Location	chr12:955508-955509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:948574..950576-chr12:953003..955955,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1012729	0.95[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs1051669	0.95[CEU][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs1051672	0.81[EUR][1000 genomes]
rs10735063	0.81[ASN][1000 genomes]
rs10735065	1.00[ASN][1000 genomes]
rs10774459	0.81[ASN][1000 genomes]
rs10774463	0.93[ASN][1000 genomes]
rs10774464	0.86[JPT][hapmap]
rs10774466	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774468	0.90[CEU][hapmap]
rs10849559	0.86[JPT][hapmap]
rs10849562	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849563	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10849568	1.00[ASN][1000 genomes]
rs10849583	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11064519	0.82[JPT][hapmap]
rs11064560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11064582	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11064584	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11513723	0.83[EUR][1000 genomes]
rs11571430	0.90[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs1159744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608756	0.86[JPT][hapmap]
rs11829138	0.83[EUR][1000 genomes]
rs11832907	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1970996	1.00[ASN][1000 genomes]
rs1990021	0.97[ASN][1000 genomes]
rs2014160	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2051852	0.84[EUR][1000 genomes]
rs2107612	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2107613	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2107614	0.93[ASN][1000 genomes]
rs2158502	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240282	1.00[ASN][1000 genomes]
rs2240283	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286007	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2301880	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2369402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2369490	0.90[ASN][1000 genomes]
rs2369491	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858703	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4388955	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766377	0.83[ASW][hapmap];0.95[CEU][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes]
rs4980969	1.00[ASN][1000 genomes]
rs4980970	1.00[ASN][1000 genomes]
rs4980972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489746	0.80[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs6489749	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6489750	0.89[GIH][hapmap]
rs6489751	0.97[ASN][1000 genomes]
rs6489752	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489754	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489757	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67969314	0.96[ASN][1000 genomes]
rs724709	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298001	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300056	1.00[ASN][1000 genomes]
rs7301349	1.00[ASN][1000 genomes]
rs7309858	0.97[ASN][1000 genomes]
rs7311065	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311423	1.00[ASN][1000 genomes]
rs765250	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7953912	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7959921	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966632	0.93[ASN][1000 genomes]
rs7971329	1.00[ASN][1000 genomes]
rs7972490	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7972667	0.86[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:31 , 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	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	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
9	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
14	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking 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	26 gene(s)	inside rSNPs	diseases
16	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	esv2757485	chr12:786238-964551	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	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
19	esv2753658	chr12:835074-964506	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	esv3693103	chr12:837113-971317	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv556898	chr12:850288-968489	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv518946	chr12:854331-961336	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv556900	chr12:854331-968489	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv2752382	chr12:863833-964506	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	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
26	nsv898577	chr12:873890-969800	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	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
28	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
29	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
30	nsv522901	chr12:922408-968489	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7980163	WNK1	cis	parietal	SCAN
rs7980163	RAD52	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:905400-957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:905400-970200	Weak transcription	Spleen	Spleen
3	chr12:914400-971000	Weak transcription	Right Ventricle	heart
4	chr12:916400-977200	Weak transcription	Gastric	stomach
5	chr12:916800-955800	Weak transcription	Stomach Mucosa	stomach
6	chr12:920200-966800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:928000-960600	Weak transcription	Aorta	Aorta
8	chr12:928200-994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:933600-966600	Weak transcription	Fetal Brain Female	brain
10	chr12:933600-971400	Weak transcription	Fetal Brain Male	brain
11	chr12:934600-970200	Weak transcription	Colonic Mucosa	Colon
12	chr12:939000-960400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:939400-962800	Weak transcription	Esophagus	oesophagus
14	chr12:939600-957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:939600-960000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:939600-960400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:939600-967400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:939600-968800	Weak transcription	Lung	lung
19	chr12:939600-977000	Weak transcription	Pancreas	Pancrea
20	chr12:939800-960400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:940000-960400	Weak transcription	Fetal Lung	lung
22	chr12:940000-969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:940200-957000	Weak transcription	NH-A	brain
24	chr12:940200-960200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:940400-960200	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:940400-969000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:940400-971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:940600-956200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:940600-957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:940600-957200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:940600-966400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:940800-963800	Weak transcription	Fetal Stomach	stomach
33	chr12:940800-966800	Weak transcription	Fetal Intestine Small	intestine
34	chr12:942800-966400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:943600-966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:943800-960000	Weak transcription	HSMMtube	muscle
37	chr12:943800-965800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:943800-965800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:943800-966000	Weak transcription	Placenta	Placenta
40	chr12:943800-966200	Weak transcription	Fetal Intestine Large	intestine
41	chr12:943800-966400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:943800-966600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:944000-966400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:944000-969800	Weak transcription	K562	blood
45	chr12:944200-960200	Weak transcription	Brain Anterior Caudate	brain
46	chr12:944400-960400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:944400-966000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:944600-957800	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:945200-971000	Weak transcription	Psoas Muscle	Psoas
50	chr12:946000-955600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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