Variant report

Variant	rs2613214
Chromosome Location	chr8:95245099-95245100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95238887..95240526-chr8:95244307..95246160,2	MCF-7	breast:
2	chr8:95244367..95248911-chr8:95252094..95255731,6	MCF-7	breast:
3	chr8:95240844..95244152-chr8:95245097..95248087,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12114629	0.91[JPT][hapmap]
rs1531208	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1531209	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1531210	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1870046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445705	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2445707	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2446851	0.80[ASN][1000 genomes]
rs2446853	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2446856	0.96[ASN][1000 genomes]
rs2446857	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2446858	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2446861	0.84[ASN][1000 genomes]
rs2448908	0.91[ASN][1000 genomes]
rs2448909	0.89[ASN][1000 genomes]
rs2607061	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607063	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2613208	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2613212	0.92[ASN][1000 genomes]
rs2613213	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2613215	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613225	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2613229	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2613231	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2613233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2623155	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2623156	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2623157	0.96[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981215	0.80[ASN][1000 genomes]
rs723360	0.90[JPT][hapmap]
rs755917	0.90[JPT][hapmap]
rs7819765	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr8:95230000-95245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:95232200-95245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:95237000-95247000	Weak transcription	A549	lung
4	chr8:95239400-95245400	Weak transcription	Right Ventricle	heart
5	chr8:95239400-95246200	Weak transcription	NH-A	brain
6	chr8:95239800-95246400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:95240000-95246400	Weak transcription	NHLF	lung
8	chr8:95240200-95245400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:95240200-95245400	Weak transcription	Fetal Brain Male	brain
10	chr8:95240400-95245600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:95240400-95245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:95240400-95246800	Weak transcription	Spleen	Spleen
13	chr8:95240800-95245200	Weak transcription	Fetal Heart	heart
14	chr8:95243200-95245400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:95244200-95247400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:95244600-95245600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:95244600-95246400	Enhancers	Fetal Intestine Small	intestine
18	chr8:95244800-95245200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:95244800-95245600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:95244800-95245600	Enhancers	Fetal Intestine Large	intestine
21	chr8:95244800-95245800	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:95244800-95246400	Enhancers	HMEC	breast
23	chr8:95245000-95246000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:95245000-95246400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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