Variant report

Variant	rs2613212
Chromosome Location	chr8:95246178-95246179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95244367..95248911-chr8:95252094..95255731,6	MCF-7	breast:
2	chr8:95228655..95231086-chr8:95245435..95247101,2	MCF-7	breast:
3	chr8:95240844..95244152-chr8:95245097..95248087,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079112	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1531208	0.89[ASN][1000 genomes]
rs1531209	0.89[ASN][1000 genomes]
rs1531210	0.89[ASN][1000 genomes]
rs1870046	0.92[ASN][1000 genomes]
rs2445705	0.89[ASN][1000 genomes]
rs2445707	0.91[ASN][1000 genomes]
rs2446853	0.91[ASN][1000 genomes]
rs2446856	0.90[ASN][1000 genomes]
rs2446857	0.89[ASN][1000 genomes]
rs2446858	0.89[ASN][1000 genomes]
rs2446861	0.84[ASN][1000 genomes]
rs2448908	0.91[ASN][1000 genomes]
rs2448909	0.89[ASN][1000 genomes]
rs2607061	0.89[ASN][1000 genomes]
rs2607063	0.91[ASN][1000 genomes]
rs2613208	0.94[ASN][1000 genomes]
rs2613211	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2613213	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2613214	0.92[ASN][1000 genomes]
rs2613215	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2613225	0.84[ASN][1000 genomes]
rs2613229	0.89[ASN][1000 genomes]
rs2613231	0.89[ASN][1000 genomes]
rs2613233	0.91[ASN][1000 genomes]
rs2623155	0.84[ASN][1000 genomes]
rs2623156	0.84[ASN][1000 genomes]
rs2623157	0.84[ASN][1000 genomes]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95237000-95247000	Weak transcription	A549	lung
2	chr8:95239400-95246200	Weak transcription	NH-A	brain
3	chr8:95239800-95246400	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:95240000-95246400	Weak transcription	NHLF	lung
5	chr8:95240400-95246800	Weak transcription	Spleen	Spleen
6	chr8:95244200-95247400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:95244600-95246400	Enhancers	Fetal Intestine Small	intestine
8	chr8:95244800-95246400	Enhancers	HMEC	breast
9	chr8:95245000-95246400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:95245200-95246200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:95245200-95246400	Enhancers	Fetal Heart	heart
12	chr8:95245400-95246200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:95245400-95246200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:95245400-95246200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr8:95245400-95246400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:95245400-95246400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:95245400-95246400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:95245400-95246600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95245400-95247200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr8:95245600-95246200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:95245600-95246400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:95245600-95246400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:95245600-95246400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:95245600-95246400	Enhancers	Ovary	ovary
25	chr8:95245600-95246400	Weak transcription	Right Ventricle	heart
26	chr8:95245600-95247400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:95245600-95247400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:95245800-95246200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:95245800-95246200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:95245800-95246400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:95246000-95246200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:95246000-95253200	Weak transcription	Fetal Brain Male	brain

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