Variant report

Variant	rs7008134
Chromosome Location	chr8:125739115-125739116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125605353..125605854-chr8:125738654..125739357,2	MCF-7	breast:
2	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
3	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
4	chr8:125737801..125739852-chr8:125873745..125876555,2	MCF-7	breast:
5	chr8:125737610..125739305-chr8:125935041..125936937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11986350	1.00[EUR][1000 genomes]
rs16900004	1.00[EUR][1000 genomes]
rs57412581	1.00[EUR][1000 genomes]
rs60882869	1.00[EUR][1000 genomes]
rs6990550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999319	1.00[EUR][1000 genomes]
rs7001026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347655	1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125737200-125741400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:125737200-125741600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125737400-125739600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:125737600-125739400	Active TSS	Fetal Brain Female	brain
5	chr8:125737800-125740600	Active TSS	Fetal Brain Male	brain
6	chr8:125737800-125741200	Active TSS	Right Atrium	heart
7	chr8:125738000-125740800	Active TSS	HMEC	breast
8	chr8:125738000-125741400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:125738200-125739200	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr8:125738200-125739200	Flanking Active TSS	NHEK	skin
11	chr8:125738200-125739400	Flanking Active TSS	Placenta	Placenta
12	chr8:125738200-125739800	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr8:125738200-125740000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr8:125738200-125740000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr8:125738200-125740800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr8:125738200-125741000	Active TSS	Right Ventricle	heart
17	chr8:125738200-125741200	Active TSS	Aorta	Aorta
18	chr8:125738200-125741400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:125738200-125741400	Active TSS	NHLF	lung
20	chr8:125738400-125739200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr8:125738400-125739200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr8:125738400-125739400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:125738400-125739400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:125738400-125739600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125738400-125739600	Active TSS	Spleen	Spleen
26	chr8:125738400-125739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr8:125738400-125740600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr8:125738400-125741200	Active TSS	Gastric	stomach
32	chr8:125738400-125741400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:125738600-125739200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:125738600-125739200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
35	chr8:125738600-125739200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:125738600-125739200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr8:125738600-125739200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:125738600-125739200	Flanking Bivalent TSS/Enh	NH-A	brain
39	chr8:125738600-125739400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:125738600-125739400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:125738600-125739800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:125738600-125739800	Active TSS	Small Intestine	intestine
43	chr8:125738600-125741200	Active TSS	Lung	lung
44	chr8:125738600-125741400	Active TSS	Brain Cingulate Gyrus	brain
45	chr8:125738800-125739200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:125738800-125739200	Flanking Active TSS	Liver	Liver
47	chr8:125738800-125739200	Bivalent Enhancer	GM12878-XiMat	blood
48	chr8:125738800-125739200	Bivalent/Poised TSS	HepG2	liver
49	chr8:125738800-125739400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:125738800-125739400	Bivalent/Poised TSS	Colonic Mucosa	Colon

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