Variant report

Variant	rs2613208
Chromosome Location	chr8:95247830-95247831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12114629	0.91[JPT][hapmap]
rs1531208	0.91[ASN][1000 genomes]
rs1531209	0.91[ASN][1000 genomes]
rs1531210	0.91[ASN][1000 genomes]
rs1870046	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2445705	0.91[ASN][1000 genomes]
rs2445707	0.94[ASN][1000 genomes]
rs2445717	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2446853	0.94[ASN][1000 genomes]
rs2446856	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2446857	0.91[ASN][1000 genomes]
rs2446858	0.91[ASN][1000 genomes]
rs2448908	0.86[ASN][1000 genomes]
rs2448909	0.84[ASN][1000 genomes]
rs2607061	0.91[ASN][1000 genomes]
rs2607063	0.94[ASN][1000 genomes]
rs2613212	0.94[ASN][1000 genomes]
rs2613213	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2613214	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2613215	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2613225	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2613229	0.91[ASN][1000 genomes]
rs2613231	0.91[ASN][1000 genomes]
rs2613233	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2623155	0.86[ASN][1000 genomes]
rs2623156	0.86[ASN][1000 genomes]
rs2623157	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs723360	0.90[JPT][hapmap]
rs755917	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95246000-95253200	Weak transcription	Fetal Brain Male	brain
2	chr8:95246800-95248000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:95246800-95254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:95247000-95254000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:95247200-95248200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:95247200-95248600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95247200-95252200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:95247200-95252200	Weak transcription	A549	lung
9	chr8:95247200-95252400	Weak transcription	NHLF	lung
10	chr8:95247200-95252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:95247200-95253600	Weak transcription	Left Ventricle	heart
12	chr8:95247200-95253600	Weak transcription	Right Atrium	heart
13	chr8:95247200-95262400	Weak transcription	Gastric	stomach
14	chr8:95247400-95248400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:95247400-95252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:95247400-95252200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:95247400-95252200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:95247400-95252200	Weak transcription	Fetal Heart	heart
19	chr8:95247400-95252200	Weak transcription	Fetal Intestine Small	intestine
20	chr8:95247400-95252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:95247400-95252400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:95247400-95252600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:95247600-95249000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:95247600-95253000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:95247600-95253200	Weak transcription	HMEC	breast
26	chr8:95247800-95249000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:95247800-95253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:95247800-95256800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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