Variant report

Variant	rs2292593
Chromosome Location	chr17:63197920-63197921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63117935..63120127-chr17:63196537..63198308,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1122078	0.88[ASN][1000 genomes]
rs1122079	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs12450751	0.88[ASN][1000 genomes]
rs12450836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533334	0.82[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap]
rs1533335	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16961183	1.00[CEU][hapmap]
rs16961258	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292592	0.80[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs2869577	0.88[ASN][1000 genomes]
rs4790954	0.98[ASN][1000 genomes]
rs4790955	0.99[ASN][1000 genomes]
rs4790956	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4790957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4791215	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs4791217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4791218	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4791220	0.86[CHB][hapmap]
rs57672979	0.88[ASN][1000 genomes]
rs57941427	0.85[ASN][1000 genomes]
rs60116986	0.99[ASN][1000 genomes]
rs60220025	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61524757	0.99[ASN][1000 genomes]
rs7207726	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs7220751	0.80[ASN][1000 genomes]
rs73330404	0.99[ASN][1000 genomes]
rs73347657	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8070231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072505	0.87[ASN][1000 genomes]
rs8072603	0.82[CHD][hapmap];0.87[ASN][1000 genomes]
rs8075687	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8075956	0.82[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8075981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8077696	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8078293	0.83[JPT][hapmap]
rs8078401	0.98[ASN][1000 genomes]
rs8078678	0.87[ASN][1000 genomes]
rs8080420	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9890021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9890087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9898825	0.85[CEU][hapmap]
rs9901108	0.85[CEU][hapmap]
rs9904247	0.90[ASN][1000 genomes]
rs9910643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs9910756	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9916170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9916445	0.85[ASN][1000 genomes]
rs9916525	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9916720	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9916766	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
4	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
6	chr17:63190400-63198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:63190400-63198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:63191200-63198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:63193200-63199000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:63193800-63203200	Weak transcription	Fetal Stomach	stomach
11	chr17:63193800-63209800	Weak transcription	Dnd41	blood
12	chr17:63194000-63198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:63195000-63198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:63195000-63198800	Weak transcription	Brain Anterior Caudate	brain
15	chr17:63195000-63203200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:63195000-63205000	Weak transcription	Brain Substantia Nigra	brain
17	chr17:63195000-63205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:63195000-63212400	Weak transcription	Pancreas	Pancrea
19	chr17:63195200-63209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:63196200-63198000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:63197400-63199000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr17:63197600-63199200	Strong transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:63197800-63198800	Enhancers	NHEK	skin
24	chr17:63197800-63199000	Enhancers	HMEC	breast

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