Variant report

Variant	rs3019149
Chromosome Location	chr8:95430579-95430580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95429257..95431260-chr8:95486764..95488913,2	MCF-7	breast:
2	chr8:95429301..95430964-chr8:95556337..95558310,2	MCF-7	breast:
3	chr8:95417917..95420119-chr8:95429858..95434384,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10087254	0.98[ASN][1000 genomes]
rs10087503	0.97[ASN][1000 genomes]
rs10095298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10102233	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs10102496	0.81[ASN][1000 genomes]
rs1011249	0.86[ASN][1000 genomes]
rs10112606	0.81[ASN][1000 genomes]
rs10216902	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs10464877	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504936	0.95[CHB][hapmap]
rs10808669	0.98[ASN][1000 genomes]
rs10956913	0.97[ASN][1000 genomes]
rs10956914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12375355	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545262	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs12549544	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675415	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676373	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680029	0.82[ASN][1000 genomes]
rs12680213	0.80[ASN][1000 genomes]
rs12681366	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12681504	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682038	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682524	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13280849	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs13281619	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1372048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561648	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1598713	0.95[CHB][hapmap]
rs16916760	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16916788	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs16916802	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1872889	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs2011246	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043987	0.84[ASN][1000 genomes]
rs2043988	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2046664	0.86[CHB][hapmap]
rs2165405	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2197004	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291439	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2381793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2381886	0.98[ASN][1000 genomes]
rs28641679	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2919655	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2919656	0.98[ASN][1000 genomes]
rs2919657	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919658	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919659	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919660	0.84[ASN][1000 genomes]
rs2919662	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2919664	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919667	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919668	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919670	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2919672	0.86[ASN][1000 genomes]
rs2919673	0.86[ASN][1000 genomes]
rs2921386	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921389	0.84[ASN][1000 genomes]
rs2930956	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2930958	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2930961	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930962	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs2930963	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930968	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2930970	0.84[ASN][1000 genomes]
rs2930971	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2931631	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2931633	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2960121	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960122	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019145	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019146	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019148	0.81[EUR][1000 genomes]
rs3019150	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019154	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs3019155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019279	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3019280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019282	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019284	0.98[ASN][1000 genomes]
rs35918414	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735288	0.95[CHB][hapmap]
rs4735291	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735292	0.95[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4735293	0.83[EUR][1000 genomes]
rs55963151	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56285115	0.80[ASN][1000 genomes]
rs6980687	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs6999103	0.98[ASN][1000 genomes]
rs6999976	0.98[ASN][1000 genomes]
rs72672679	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72674819	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752460	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs9297939	0.98[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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95393200-95447000	Weak transcription	K562	blood
2	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
4	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:95420800-95432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:95422000-95430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:95428800-95431200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr8:95429000-95430600	Enhancers	Hela-S3	cervix
9	chr8:95429000-95431000	Enhancers	HepG2	liver
10	chr8:95429000-95431000	Enhancers	HMEC	breast
11	chr8:95429200-95430600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:95429200-95430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:95429200-95430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:95429200-95430800	Enhancers	Stomach Mucosa	stomach
15	chr8:95429200-95431000	Enhancers	NHDF-Ad	bronchial
16	chr8:95429400-95430600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:95429400-95430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:95429400-95430800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:95429400-95431000	Enhancers	HSMM	muscle
20	chr8:95429400-95431000	Enhancers	Osteobl	bone
21	chr8:95429400-95431200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:95429600-95430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:95429600-95430800	Flanking Active TSS	HUVEC	blood vessel
24	chr8:95429600-95431000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:95429600-95432200	Weak transcription	Dnd41	blood
26	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:95429800-95430600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:95429800-95430600	Enhancers	Fetal Intestine Large	intestine
29	chr8:95429800-95430800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:95429800-95430800	Enhancers	NHEK	skin
31	chr8:95429800-95431000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:95429800-95431000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:95429800-95431000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:95430000-95430600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:95430000-95430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:95430000-95430800	Enhancers	Small Intestine	intestine
37	chr8:95430000-95431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:95430000-95431000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:95430000-95431000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:95430200-95430600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:95430200-95430600	Enhancers	HSMMtube	muscle
42	chr8:95430200-95430600	Flanking Active TSS	NH-A	brain
43	chr8:95430200-95431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:95430200-95431400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:95430400-95430600	Flanking Active TSS	A549	lung
46	chr8:95430400-95431000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:95430400-95431600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:95430400-95431800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:95430400-95447200	Weak transcription	Fetal Intestine Small	intestine

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