Variant report

Variant	rs12758966
Chromosome Location	chr1:86166244-86166245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86162153..86164641-chr1:86165348..86167179,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10747324	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10873711	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs10873718	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10873719	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1094360	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037294	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12410754	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12756841	0.88[EUR][1000 genomes]
rs1360239	0.80[EUR][1000 genomes]
rs1481200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1617458	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17128293	0.92[ASN][1000 genomes]
rs1764287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1764295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1775989	0.85[ASN][1000 genomes]
rs1775991	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1775992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2014733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2014750	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2026772	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2389973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2389974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2389975	0.96[EUR][1000 genomes]
rs2785082	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2970548	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313723	0.92[ASN][1000 genomes]
rs313724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs313725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs369999	1.00[CEU][hapmap]
rs381453	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs383558	0.91[EUR][1000 genomes]
rs399547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs401657	0.91[EUR][1000 genomes]
rs420515	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs425357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs429040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430956	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs432254	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4379699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs438401	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs444875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs450953	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4949917	1.00[CEU][hapmap]
rs4949918	1.00[CEU][hapmap]
rs6576776	1.00[YRI][hapmap]
rs6673975	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6682235	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6686719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694808	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7521240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7528385	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7529942	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7533395	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs7535884	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7547023	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7554621	0.88[EUR][1000 genomes]
rs821377	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs821378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs821380	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs821382	1.00[ASN][1000 genomes]
rs821383	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821385	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs821397	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs821404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs849158	0.82[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9651138	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9661608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9793556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86103600-86172600	Weak transcription	Gastric	stomach
4	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
6	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
7	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
8	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
9	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
10	chr1:86135200-86171200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:86141600-86171800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:86142400-86170600	Weak transcription	Brain Germinal Matrix	brain
14	chr1:86142600-86166400	Weak transcription	Lung	lung
15	chr1:86142600-86170800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:86142600-86171000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
18	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
19	chr1:86142800-86166400	Weak transcription	Placenta	Placenta
20	chr1:86144200-86166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:86144200-86168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:86144400-86167600	Weak transcription	Fetal Lung	lung
23	chr1:86144400-86170400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:86146000-86170600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
26	chr1:86147200-86169400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
28	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
29	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
30	chr1:86155400-86171800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:86157400-86166400	Weak transcription	Fetal Thymus	thymus
32	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:86158000-86166400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:86158000-86166400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:86158000-86166400	Weak transcription	Fetal Stomach	stomach
37	chr1:86158000-86167400	Weak transcription	Ovary	ovary
38	chr1:86158000-86170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:86158200-86166400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:86158200-86166400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:86158200-86166400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:86158200-86166400	Weak transcription	Left Ventricle	heart
44	chr1:86158400-86166600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:86158400-86169600	Weak transcription	Hela-S3	cervix
46	chr1:86158600-86167400	Weak transcription	NHEK	skin
47	chr1:86159000-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:86161400-86166400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:86162000-86171800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:86162400-86171600	Strong transcription	Monocytes-CD14+_RO01746	blood

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