Variant report

Variant	rs3019279
Chromosome Location	chr8:95447905-95447906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95446159..95448906-chr8:95449268..95451697,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10087254	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10087503	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10095298	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10102233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102496	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109060	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1011249	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112606	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10216902	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808669	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956911	0.91[ASN][1000 genomes]
rs10956913	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956914	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12375355	0.83[ASN][1000 genomes]
rs12545262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549544	0.83[ASN][1000 genomes]
rs12674614	0.82[ASN][1000 genomes]
rs12679347	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680029	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12680213	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12681366	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12681504	0.80[ASN][1000 genomes]
rs12682038	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs12682524	0.83[ASN][1000 genomes]
rs13280849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13281619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372048	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs1561648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1580498	0.80[EUR][1000 genomes]
rs1598713	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16916788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16916796	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16916802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2011246	0.83[ASN][1000 genomes]
rs2028428	0.91[EUR][1000 genomes]
rs2043987	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043988	0.83[ASN][1000 genomes]
rs2046664	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2046666	0.89[CEU][hapmap]
rs2165405	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171440	0.84[ASN][1000 genomes]
rs2197003	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2197004	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2246066	0.83[CEU][hapmap]
rs2291439	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2381793	0.95[CHB][hapmap]
rs2381886	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2445721	0.89[CEU][hapmap]
rs2450558	0.89[CEU][hapmap]
rs2450572	0.89[CEU][hapmap]
rs2470739	0.92[CEU][hapmap]
rs2470740	0.89[CEU][hapmap]
rs2470742	0.89[CEU][hapmap]
rs2515153	0.84[CEU][hapmap]
rs28641679	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2919654	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2919656	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2919657	0.83[ASN][1000 genomes]
rs2919658	0.83[ASN][1000 genomes]
rs2919659	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2919660	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2919663	0.84[EUR][1000 genomes]
rs2919664	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2919665	0.84[EUR][1000 genomes]
rs2919666	0.84[EUR][1000 genomes]
rs2919667	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2919668	0.83[ASN][1000 genomes]
rs2919670	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2919672	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919673	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921385	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2921386	0.83[ASN][1000 genomes]
rs2921387	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2921388	0.85[EUR][1000 genomes]
rs2921389	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930956	0.83[ASN][1000 genomes]
rs2930958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930959	0.84[EUR][1000 genomes]
rs2930961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930962	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930963	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2930964	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2930967	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2930968	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930969	0.84[EUR][1000 genomes]
rs2930970	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930971	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2931631	0.84[ASN][1000 genomes]
rs2931632	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2931633	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960121	0.84[ASN][1000 genomes]
rs2960122	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019146	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]
rs3019147	0.84[ASN][1000 genomes]
rs3019148	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019149	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3019150	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019155	0.84[ASN][1000 genomes]
rs3019156	0.84[ASN][1000 genomes]
rs3019277	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019278	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019280	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019281	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019282	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3019284	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098703	0.81[EUR][1000 genomes]
rs3099397	0.81[EUR][1000 genomes]
rs3099398	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3099401	0.82[EUR][1000 genomes]
rs35889192	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735288	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4735291	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735292	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];0.94[ASN][1000 genomes]
rs4735294	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs55963151	0.83[ASN][1000 genomes]
rs56285115	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58826082	0.87[ASN][1000 genomes]
rs66787185	0.88[ASN][1000 genomes]
rs67639046	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67808321	0.91[ASN][1000 genomes]
rs6980687	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6991077	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997115	0.87[ASN][1000 genomes]
rs6999103	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6999976	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs716770	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674819	0.83[ASN][1000 genomes]
rs7824722	0.80[ASN][1000 genomes]
rs7825731	0.87[ASN][1000 genomes]
rs7831073	0.85[ASN][1000 genomes]
rs9297939	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935052	0.84[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3446413	chr8:95444376-95448274	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a
5	nsv891202	chr8:95445660-95456986	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95431000-95448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:95431000-95448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:95441800-95448600	Weak transcription	Hela-S3	cervix
5	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95444000-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:95444800-95449600	Active TSS	GM12878-XiMat	blood
8	chr8:95445600-95448800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:95445600-95455000	Weak transcription	Dnd41	blood
10	chr8:95446400-95448600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:95446400-95449000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:95446400-95449200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:95446400-95449200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95446400-95449400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:95446600-95448600	Active TSS	Brain Angular Gyrus	brain
16	chr8:95446600-95448600	Active TSS	Fetal Intestine Large	intestine
17	chr8:95446600-95448800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:95446600-95449200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:95446600-95449200	Active TSS	Brain Anterior Caudate	brain
20	chr8:95446600-95449400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:95446800-95448600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:95446800-95448800	Active TSS	HMEC	breast
23	chr8:95446800-95449200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:95446800-95449200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:95446800-95449200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:95447000-95448400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:95447000-95448600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr8:95447000-95448600	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:95447000-95448600	Active TSS	Liver	Liver
30	chr8:95447000-95448600	Active TSS	K562	blood
31	chr8:95447200-95448000	Active TSS	Osteobl	bone
32	chr8:95447200-95448400	Active TSS	Fetal Kidney	kidney
33	chr8:95447200-95448600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:95447200-95448600	Active TSS	Fetal Intestine Small	intestine
35	chr8:95447200-95448600	Active TSS	Fetal Thymus	thymus
36	chr8:95447200-95448600	Active TSS	Thymus	Thymus
37	chr8:95447200-95448600	Active TSS	HUVEC	blood vessel
38	chr8:95447200-95448600	Active TSS	NH-A	brain
39	chr8:95447200-95448800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:95447200-95448800	Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:95447200-95448800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:95447200-95448800	Active TSS	Adipose Nuclei	Adipose
43	chr8:95447200-95448800	Active TSS	Colon Smooth Muscle	Colon
44	chr8:95447200-95448800	Active TSS	HSMMtube	muscle
45	chr8:95447200-95448800	Active TSS	NHLF	lung
46	chr8:95447200-95449000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:95447200-95449000	Active TSS	Fetal Stomach	stomach
48	chr8:95447200-95449000	Active TSS	Right Ventricle	heart
49	chr8:95447200-95449200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:95447200-95449200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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