Variant report

Variant	rs3019146
Chromosome Location	chr8:95414106-95414107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10087254	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087503	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095298	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10102496	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109060	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1011249	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112606	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10216902	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10464877	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10504936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808669	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956911	0.92[ASN][1000 genomes]
rs10956913	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956914	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12375355	0.84[ASN][1000 genomes]
rs12545262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549544	0.84[ASN][1000 genomes]
rs12674614	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679347	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12680029	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680213	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681366	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681504	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682038	0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682524	0.84[ASN][1000 genomes]
rs13280849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13281619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1372048	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs1561648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1580498	0.85[EUR][1000 genomes]
rs1598713	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16916788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16916796	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16916802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1872889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011246	0.84[ASN][1000 genomes]
rs2028428	0.84[EUR][1000 genomes]
rs2043987	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2043988	0.84[ASN][1000 genomes]
rs2046664	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2046665	0.84[EUR][1000 genomes]
rs2046666	0.89[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2165405	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2171440	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2197003	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs2197004	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2246066	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2291439	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381793	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2381886	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2445721	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2450558	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs2450572	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2470735	0.86[EUR][1000 genomes]
rs2470739	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2470740	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2470742	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2470746	0.85[EUR][1000 genomes]
rs2515153	0.84[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2515154	0.82[EUR][1000 genomes]
rs2515155	0.84[EUR][1000 genomes]
rs28641679	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919654	0.84[CEU][hapmap]
rs2919655	0.81[ASN][1000 genomes]
rs2919656	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919657	0.84[ASN][1000 genomes]
rs2919658	0.84[ASN][1000 genomes]
rs2919659	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919660	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919664	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919667	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919668	0.84[ASN][1000 genomes]
rs2919670	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2919672	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2919673	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2921385	0.84[CEU][hapmap]
rs2921386	0.84[ASN][1000 genomes]
rs2921387	0.80[CEU][hapmap]
rs2921389	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930956	0.84[ASN][1000 genomes]
rs2930958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930961	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930962	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930963	0.86[ASN][1000 genomes]
rs2930964	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2930967	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs2930968	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930970	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930971	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931631	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2931632	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2931633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960121	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2960122	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019145	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019147	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019149	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019150	0.86[ASN][1000 genomes]
rs3019154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019155	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019156	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019277	0.86[ASN][1000 genomes]
rs3019278	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs3019279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019280	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs3019281	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs3019282	0.86[ASN][1000 genomes]
rs3019284	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099398	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs35889192	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735288	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735291	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735294	0.96[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs55963151	0.84[ASN][1000 genomes]
rs56285115	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58826082	0.88[ASN][1000 genomes]
rs66787185	0.89[ASN][1000 genomes]
rs67639046	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67808321	0.92[ASN][1000 genomes]
rs6980687	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991077	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997115	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999103	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6999976	0.84[ASN][1000 genomes]
rs716770	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72674819	0.84[ASN][1000 genomes]
rs7824722	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7825731	0.88[ASN][1000 genomes]
rs7831073	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297939	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935052	0.84[CEU][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:95382400-95414800	Weak transcription	Gastric	stomach
4	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
5	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
6	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
13	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:95392600-95417400	Weak transcription	Osteobl	bone
20	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
21	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:95393200-95447000	Weak transcription	K562	blood
24	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
25	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:95402800-95417000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:95404000-95416600	Weak transcription	Brain Germinal Matrix	brain
30	chr8:95404000-95418400	Weak transcription	NH-A	brain
31	chr8:95404200-95416400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:95406400-95416200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:95407800-95418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:95408200-95416000	Weak transcription	HSMM	muscle
38	chr8:95408400-95416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:95408600-95429000	Weak transcription	HMEC	breast
40	chr8:95409400-95415800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:95409400-95417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:95409800-95414600	Weak transcription	A549	lung
45	chr8:95410600-95417200	Strong transcription	Dnd41	blood
46	chr8:95410600-95419200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:95411200-95414200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:95412000-95419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
50	chr8:95412400-95414600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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