Variant report

Variant	rs72680377
Chromosome Location	chr8:119915948-119915949
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	chr8:119909435..119912198-chr8:119913488..119916244,2	MCF-7	breast:
2	chr8:119914374..119916588-chr8:119923602..119925267,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10505346	0.88[ASN][1000 genomes]
rs10505349	0.88[ASN][1000 genomes]
rs10955911	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955912	0.88[ASN][1000 genomes]
rs11573838	0.86[ASN][1000 genomes]
rs11573896	0.88[ASN][1000 genomes]
rs11573939	0.81[EUR][1000 genomes]
rs11573959	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984630	0.88[ASN][1000 genomes]
rs11997782	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1485287	0.88[ASN][1000 genomes]
rs1485288	0.88[ASN][1000 genomes]
rs1493943	0.88[ASN][1000 genomes]
rs17757532	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1994276	0.88[ASN][1000 genomes]
rs2875845	0.88[ASN][1000 genomes]
rs3134048	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130891	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61470971	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67132155	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680365	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv891415	chr8:119886923-119921354	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119909200-119916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:119910200-119917200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:119911600-119916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119912800-119917800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119912800-119917800	Enhancers	NHDF-Ad	bronchial
6	chr8:119912800-119917800	Enhancers	NHLF	lung
7	chr8:119913400-119916200	Enhancers	Liver	Liver
8	chr8:119914000-119916200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:119914000-119922200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:119914200-119917000	Weak transcription	Osteobl	bone
11	chr8:119914200-119917200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:119914200-119918400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:119914400-119917800	Enhancers	HMEC	breast
14	chr8:119914600-119917800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119914600-119918200	Weak transcription	Fetal Intestine Large	intestine
16	chr8:119914800-119916600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr8:119914800-119918800	Enhancers	NHEK	skin
18	chr8:119915000-119916200	Weak transcription	Pancreas	Pancrea
19	chr8:119915200-119917000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:119915200-119917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:119915200-119918000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:119915400-119916800	Weak transcription	HSMM	muscle
23	chr8:119915400-119917000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:119915600-119916600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:119915600-119916600	Weak transcription	Hela-S3	cervix
26	chr8:119915600-119916800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:119915600-119917200	Weak transcription	HUVEC	blood vessel
28	chr8:119915800-119917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:119915800-119917200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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