Variant report

Variant	rs58012966
Chromosome Location	chr8:131379799-131379800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131303917..131305771-chr8:131379241..131381202,2	MCF-7	breast:
2	chr8:131374605..131377133-chr8:131378600..131381227,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1030386	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676014	0.92[ASN][1000 genomes]
rs12681590	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13269931	0.85[ASN][1000 genomes]
rs16904220	0.92[ASN][1000 genomes]
rs16904228	0.92[ASN][1000 genomes]
rs2114197	0.92[ASN][1000 genomes]
rs34387098	0.85[ASN][1000 genomes]
rs34857454	0.85[ASN][1000 genomes]
rs36004599	0.85[ASN][1000 genomes]
rs55815182	0.85[ASN][1000 genomes]
rs56086422	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66488832	0.89[ASN][1000 genomes]
rs6986746	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7014715	0.85[ASN][1000 genomes]
rs7018391	0.85[ASN][1000 genomes]
rs7836536	0.85[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131382000	Weak transcription	Lung	lung
2	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
3	chr8:131371600-131383800	Weak transcription	Ovary	ovary
4	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
7	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
10	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:131371800-131396400	Weak transcription	HepG2	liver
12	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
13	chr8:131373800-131382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131373800-131382400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
17	chr8:131374600-131382000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
19	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
21	chr8:131374800-131379800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:131376000-131379800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:131376400-131381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:131376400-131381200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:131376600-131380400	Enhancers	NH-A	brain
26	chr8:131376600-131380600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:131376600-131381200	Enhancers	Osteobl	bone
28	chr8:131377000-131380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:131377200-131379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:131377400-131379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:131377400-131379800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:131377400-131379800	Weak transcription	Right Ventricle	heart
33	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
34	chr8:131377600-131379800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:131377600-131379800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:131377600-131379800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:131377600-131380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:131377600-131380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:131377600-131382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:131377600-131382400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:131377600-131382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:131377600-131383600	Weak transcription	Right Atrium	heart
43	chr8:131378400-131380800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:131378600-131380600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:131378600-131382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131378800-131379800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:131378800-131380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:131378800-131380800	Weak transcription	Esophagus	oesophagus
49	chr8:131378800-131382000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:131378800-131382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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