Variant report

Variant	rs7006812
Chromosome Location	chr8:58928607-58928608
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	chr8:58926811..58928772-chr8:58931481..58933611,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089259	0.92[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091875	0.92[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10504246	0.92[LWK][hapmap];0.94[MKK][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs1106314	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1108188	0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11780747	0.85[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11997733	0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252750	0.87[AFR][1000 genomes]
rs13279262	0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs28550347	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34915140	0.87[AFR][1000 genomes]
rs35856042	0.85[AFR][1000 genomes]
rs58124183	0.93[AFR][1000 genomes]
rs61126058	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67784763	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68143639	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989512	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999606	0.87[AFR][1000 genomes]
rs7017824	0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs72621433	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813490	0.92[CHB][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828423	0.85[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7832353	0.92[CHB][hapmap];0.96[CHD][hapmap];0.87[LWK][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842966	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7845456	0.92[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs9297984	0.81[YRI][hapmap];0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58908400-58928800	Weak transcription	Esophagus	oesophagus
2	chr8:58908400-58929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:58908600-58942800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:58908800-58929200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:58909400-58928800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:58909400-58943000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:58913400-58929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:58914200-58929000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:58916400-58929000	Weak transcription	NHDF-Ad	bronchial
10	chr8:58916400-58929200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:58916400-58934600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:58916600-58929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:58916600-58929200	Weak transcription	Osteobl	bone
14	chr8:58916800-58928800	Weak transcription	Psoas Muscle	Psoas
15	chr8:58916800-58929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:58920000-58929000	Weak transcription	Pancreas	Pancrea
17	chr8:58920400-58928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:58920600-58929000	Weak transcription	Stomach Mucosa	stomach
19	chr8:58921600-58934200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:58921800-58928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:58921800-58937400	Weak transcription	HSMMtube	muscle
22	chr8:58922000-58928800	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:58923400-58929000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:58923400-58937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:58924400-58946400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:58924600-58929000	Weak transcription	Adipose Nuclei	Adipose
27	chr8:58924600-58929200	Weak transcription	Ovary	ovary
28	chr8:58926200-58928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:58926600-58928800	Weak transcription	Lung	lung
30	chr8:58926600-58928800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:58926600-58929000	Weak transcription	Fetal Brain Female	brain
32	chr8:58926600-58934400	Weak transcription	Aorta	Aorta
33	chr8:58926600-58942000	Weak transcription	HSMM	muscle
34	chr8:58926800-58928800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:58926800-58929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:58926800-58937600	Weak transcription	Spleen	Spleen
37	chr8:58927000-58928800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:58927000-58928800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:58927000-58928800	Weak transcription	Fetal Stomach	stomach
40	chr8:58927000-58929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:58927000-58929000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:58927000-58929000	Weak transcription	Gastric	stomach
43	chr8:58927000-58943000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:58927000-58948000	Weak transcription	Fetal Brain Male	brain
45	chr8:58927200-58928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:58927200-58928800	Weak transcription	Left Ventricle	heart
47	chr8:58927200-58928800	Weak transcription	Right Ventricle	heart
48	chr8:58927200-58929000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:58927200-58929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:58927200-58929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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