Variant report

Variant	rs73324246
Chromosome Location	chr8:124686411-124686412
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	chr8:124684878..124686845-chr8:124693855..124696306,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986749	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986773	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004529	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73330061	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833197	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
2	chr8:124682400-124686600	Weak transcription	Fetal Heart	heart
3	chr8:124684000-124688600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:124684000-124688800	Weak transcription	HSMMtube	muscle
5	chr8:124684200-124688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:124684200-124688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:124684200-124688200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:124684200-124688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124684200-124688200	Weak transcription	Colonic Mucosa	Colon
10	chr8:124684200-124688200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:124684200-124688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:124684200-124688400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:124684200-124688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:124684200-124689000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:124684200-124689000	Weak transcription	NHEK	skin
16	chr8:124684200-124689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:124684200-124689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:124684200-124689400	Weak transcription	HSMM	muscle
19	chr8:124684200-124689400	Weak transcription	Osteobl	bone
20	chr8:124684200-124689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:124684200-124689600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:124684200-124689600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:124684200-124691000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:124684200-124691200	Weak transcription	NH-A	brain
25	chr8:124684400-124688400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:124684400-124688600	Weak transcription	Small Intestine	intestine
27	chr8:124684400-124689000	Weak transcription	HMEC	breast
28	chr8:124684400-124691800	Weak transcription	Aorta	Aorta
29	chr8:124684400-124692400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:124684600-124689000	Weak transcription	NHDF-Ad	bronchial

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