Variant report

Variant	rs3019148
Chromosome Location	chr8:95429635-95429636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:
2	chr8:95429257..95431260-chr8:95486764..95488913,2	MCF-7	breast:
3	chr8:95429301..95430964-chr8:95556337..95558310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10087254	0.82[EUR][1000 genomes]
rs10087503	0.82[EUR][1000 genomes]
rs10095298	0.82[EUR][1000 genomes]
rs10102233	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10102496	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109060	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1011249	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10112606	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10216902	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10504936	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10808669	0.82[EUR][1000 genomes]
rs10956911	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10956913	0.82[EUR][1000 genomes]
rs10956914	0.82[EUR][1000 genomes]
rs12545262	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12674614	0.80[EUR][1000 genomes]
rs12679347	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12680029	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680213	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681366	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13280849	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13281619	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1561648	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1580498	0.86[EUR][1000 genomes]
rs1598713	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16916788	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16916796	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16916802	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2028428	0.86[EUR][1000 genomes]
rs2043987	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2046665	0.83[EUR][1000 genomes]
rs2046666	0.83[EUR][1000 genomes]
rs2165405	0.86[EUR][1000 genomes]
rs2171440	0.81[EUR][1000 genomes]
rs2197004	0.85[EUR][1000 genomes]
rs2246066	0.84[EUR][1000 genomes]
rs2291439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2381886	0.82[EUR][1000 genomes]
rs2445721	0.83[EUR][1000 genomes]
rs2450558	0.85[EUR][1000 genomes]
rs2450572	0.85[EUR][1000 genomes]
rs2470735	0.85[EUR][1000 genomes]
rs2470739	0.83[EUR][1000 genomes]
rs2470740	0.83[EUR][1000 genomes]
rs2470742	0.84[EUR][1000 genomes]
rs2470746	0.84[EUR][1000 genomes]
rs2515153	0.85[EUR][1000 genomes]
rs2515154	0.81[EUR][1000 genomes]
rs2515155	0.83[EUR][1000 genomes]
rs28641679	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2919656	0.84[EUR][1000 genomes]
rs2919659	0.85[EUR][1000 genomes]
rs2919660	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2919662	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2919664	0.85[EUR][1000 genomes]
rs2919667	0.85[EUR][1000 genomes]
rs2919670	0.85[EUR][1000 genomes]
rs2919672	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2919673	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2921389	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930958	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930961	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930962	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930968	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930970	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2930971	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2931633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2960121	0.81[EUR][1000 genomes]
rs2960122	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019147	0.81[EUR][1000 genomes]
rs3019149	0.81[EUR][1000 genomes]
rs3019154	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019155	0.81[EUR][1000 genomes]
rs3019156	0.80[EUR][1000 genomes]
rs3019279	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019284	0.84[EUR][1000 genomes]
rs35889192	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735288	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4735291	0.91[EUR][1000 genomes]
rs4735292	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4735294	0.84[EUR][1000 genomes]
rs56285115	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66787185	0.80[AMR][1000 genomes]
rs67639046	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67808321	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6980687	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991077	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997115	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6999103	0.82[EUR][1000 genomes]
rs716770	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7824722	0.83[AMR][1000 genomes]
rs7825731	0.80[AMR][1000 genomes]
rs7831073	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297939	0.82[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:95393200-95447000	Weak transcription	K562	blood
3	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
5	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:95420800-95432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:95422000-95430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:95423200-95429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:95423200-95430200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:95423600-95429800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:95423600-95430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:95423600-95430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:95424800-95430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:95428800-95429800	Flanking Active TSS	A549	lung
16	chr8:95428800-95431200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr8:95429000-95430600	Enhancers	Hela-S3	cervix
18	chr8:95429000-95431000	Enhancers	HepG2	liver
19	chr8:95429000-95431000	Enhancers	HMEC	breast
20	chr8:95429200-95430000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:95429200-95430400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:95429200-95430600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:95429200-95430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:95429200-95430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:95429200-95430800	Enhancers	Stomach Mucosa	stomach
26	chr8:95429200-95431000	Enhancers	NHDF-Ad	bronchial
27	chr8:95429400-95430400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:95429400-95430600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:95429400-95430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:95429400-95430800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:95429400-95431000	Enhancers	HSMM	muscle
32	chr8:95429400-95431000	Enhancers	Osteobl	bone
33	chr8:95429400-95431200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:95429600-95430200	Enhancers	NH-A	brain
35	chr8:95429600-95430400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:95429600-95430400	Enhancers	Fetal Intestine Small	intestine
37	chr8:95429600-95430400	Enhancers	NHLF	lung
38	chr8:95429600-95430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:95429600-95430800	Flanking Active TSS	HUVEC	blood vessel
40	chr8:95429600-95431000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:95429600-95432200	Weak transcription	Dnd41	blood
42	chr8:95429600-95446200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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