Variant report

Variant	rs6990550
Chromosome Location	chr8:125739233-125739234
allele	C/T
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]
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]
rs7008134	1.00[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:126 , 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	chr8:125738200-125739400	Flanking Active TSS	Placenta	Placenta
10	chr8:125738200-125739800	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr8:125738200-125740000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
12	chr8:125738200-125740000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr8:125738200-125740800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:125738200-125741000	Active TSS	Right Ventricle	heart
15	chr8:125738200-125741200	Active TSS	Aorta	Aorta
16	chr8:125738200-125741400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:125738200-125741400	Active TSS	NHLF	lung
18	chr8:125738400-125739400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:125738400-125739400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:125738400-125739600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125738400-125739600	Active TSS	Spleen	Spleen
22	chr8:125738400-125739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr8:125738400-125740000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
26	chr8:125738400-125740600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
27	chr8:125738400-125741200	Active TSS	Gastric	stomach
28	chr8:125738400-125741400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:125738600-125739400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:125738600-125739400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:125738600-125739800	Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr8:125738600-125739800	Active TSS	Small Intestine	intestine
33	chr8:125738600-125741200	Active TSS	Lung	lung
34	chr8:125738600-125741400	Active TSS	Brain Cingulate Gyrus	brain
35	chr8:125738800-125739400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:125738800-125739400	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr8:125738800-125740000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr8:125738800-125740200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:125738800-125740400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr8:125738800-125740600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr8:125738800-125740800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:125738800-125741000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:125738800-125741000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:125738800-125741000	Active TSS	NHDF-Ad	bronchial
45	chr8:125738800-125741200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:125738800-125741200	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr8:125738800-125741200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:125738800-125741200	Active TSS	Fetal Heart	heart
49	chr8:125738800-125741200	Active TSS	Fetal Intestine Small	intestine
50	chr8:125738800-125741200	Active TSS	Left Ventricle	heart

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