Variant report

Variant	rs61196861
Chromosome Location	chr8:52837849-52837850
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	chr8:52829314..52832540-chr8:52837482..52840853,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10086504	0.95[ASN][1000 genomes]
rs10092494	0.95[ASN][1000 genomes]
rs10097328	0.86[ASN][1000 genomes]
rs10102568	0.92[ASN][1000 genomes]
rs10504127	0.80[ASN][1000 genomes]
rs10504132	0.92[ASN][1000 genomes]
rs12115132	0.91[ASN][1000 genomes]
rs13281179	0.86[ASN][1000 genomes]
rs16916800	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16916878	0.89[ASN][1000 genomes]
rs16916903	0.89[ASN][1000 genomes]
rs16916974	0.88[ASN][1000 genomes]
rs16916979	0.85[ASN][1000 genomes]
rs16917049	0.82[EUR][1000 genomes]
rs2020431	0.89[ASN][1000 genomes]
rs28754887	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873609	0.86[ASN][1000 genomes]
rs56394995	0.81[ASN][1000 genomes]
rs7010217	0.86[ASN][1000 genomes]
rs7011046	0.92[ASN][1000 genomes]
rs73592226	0.89[ASN][1000 genomes]
rs7815751	0.97[ASN][1000 genomes]
rs7843530	0.90[ASN][1000 genomes]

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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
4	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:52823000-52840200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:52823600-52838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:52831200-52838800	Weak transcription	Left Ventricle	heart
9	chr8:52831200-52840800	Weak transcription	Right Ventricle	heart
10	chr8:52831800-52841000	Weak transcription	Lung	lung
11	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
12	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
13	chr8:52832000-52838400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:52835400-52840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:52836400-52838000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:52837000-52838400	Enhancers	HMEC	breast
17	chr8:52837200-52838400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:52837200-52838400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:52837200-52838400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:52837400-52838000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:52837400-52838000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:52837400-52838000	Enhancers	Psoas Muscle	Psoas
23	chr8:52837400-52838000	Enhancers	NHEK	skin
24	chr8:52837600-52838000	Enhancers	Pancreas	Pancrea
25	chr8:52837800-52838000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:52837800-52838000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:52837800-52838000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:52837800-52838000	Enhancers	Esophagus	oesophagus
29	chr8:52837800-52839200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:52837800-52851800	Weak transcription	Ovary	ovary

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