Variant report

Variant	rs2246066
Chromosome Location	chr8:95419155-95419156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95417346..95419224-chr8:95485607..95488602,3	MCF-7	breast:
2	chr8:95418214..95419976-chr8:95420617..95423337,2	MCF-7	breast:
3	chr8:95416299..95420056-chr8:95426650..95429776,4	MCF-7	breast:
4	chr8:95417917..95420119-chr8:95429858..95434384,4	MCF-7	breast:
5	chr8:95416902..95420860-chr8:95447740..95452080,6	MCF-7	breast:
6	chr8:95404871..95406840-chr8:95417752..95419345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10102233	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs10102496	0.84[EUR][1000 genomes]
rs10112606	0.84[EUR][1000 genomes]
rs1023766	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10504936	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12545262	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs12679347	0.84[EUR][1000 genomes]
rs12680029	0.83[EUR][1000 genomes]
rs12680213	0.84[EUR][1000 genomes]
rs13280849	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs13281619	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1379246	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1580498	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1598713	0.83[CEU][hapmap]
rs16916788	0.83[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs16916796	0.83[EUR][1000 genomes]
rs16916802	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs1813167	0.83[AMR][1000 genomes]
rs1866845	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1872889	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2046665	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2046666	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2099788	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2291439	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2445699	0.80[AMR][1000 genomes]
rs2445721	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2450558	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450572	0.92[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450578	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450580	0.91[CEU][hapmap]
rs2470718	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2470728	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470731	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470732	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470739	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470740	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470742	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470746	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515098	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515099	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515100	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515153	0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515154	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515155	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515156	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515157	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2515161	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515165	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28641679	0.84[EUR][1000 genomes]
rs2919654	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919665	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919666	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2921385	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921387	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921388	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930958	0.83[CEU][hapmap]
rs2930959	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930962	0.82[CEU][hapmap]
rs2930967	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930969	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2931633	0.85[EUR][1000 genomes]
rs3019146	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs3019148	0.84[EUR][1000 genomes]
rs3019154	0.83[CEU][hapmap]
rs3019279	0.83[CEU][hapmap]
rs3098703	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098712	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098718	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098725	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3099397	0.87[EUR][1000 genomes]
rs3099398	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099401	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3099407	1.00[CHB][hapmap]
rs3099412	1.00[CHB][hapmap]
rs3102841	1.00[CHB][hapmap]
rs3102853	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3133648	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133651	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133654	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133656	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133657	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133658	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs35889192	0.80[EUR][1000 genomes]
rs4735292	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs56285115	0.83[EUR][1000 genomes]
rs6991077	0.83[EUR][1000 genomes]
rs71504369	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs716770	0.84[EUR][1000 genomes]
rs935052	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs957446	1.00[CHB][hapmap];0.82[JPT][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
2	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
3	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
6	chr8:95393200-95447000	Weak transcription	K562	blood
7	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
8	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:95408600-95429000	Weak transcription	HMEC	breast
14	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:95410600-95419200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:95412000-95419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
19	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:95413000-95421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:95416200-95419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:95416200-95429400	Weak transcription	HSMM	muscle
23	chr8:95416600-95421600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:95417000-95419200	Flanking Active TSS	A549	lung
26	chr8:95417000-95422200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:95417000-95422400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:95417200-95419200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:95417200-95419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:95417200-95428800	Weak transcription	Dnd41	blood
31	chr8:95417400-95421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:95418000-95419200	Enhancers	Osteobl	bone
33	chr8:95418000-95420200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:95418000-95420400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:95418000-95424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:95418600-95420800	Enhancers	Primary T cells from cord blood	blood
37	chr8:95418800-95420000	Strong transcription	GM12878-XiMat	blood
38	chr8:95418800-95422200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:95419000-95419200	Enhancers	Thymus	Thymus
40	chr8:95419000-95420000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:95419000-95420400	Enhancers	HepG2	liver
42	chr8:95419000-95429400	Weak transcription	Muscle Satellite Cultured Cells	--

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