Variant report

Variant	rs7833290
Chromosome Location	chr8:125738592-125738593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12547578	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430850	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430852	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430853	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978661	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870920	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470261	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470263	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729513	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125733000-125738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:125736800-125738800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:125737000-125738800	Active TSS	Brain Germinal Matrix	brain
4	chr8:125737000-125739000	Flanking Active TSS	HUVEC	blood vessel
5	chr8:125737200-125741400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:125737200-125741600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:125737400-125738800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:125737400-125738800	Active TSS	HepG2	liver
9	chr8:125737400-125739000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:125737400-125739600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:125737600-125738600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:125737600-125738800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:125737600-125739400	Active TSS	Fetal Brain Female	brain
14	chr8:125737800-125740600	Active TSS	Fetal Brain Male	brain
15	chr8:125737800-125741200	Active TSS	Right Atrium	heart
16	chr8:125738000-125738600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:125738000-125738600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:125738000-125739000	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr8:125738000-125740800	Active TSS	HMEC	breast
20	chr8:125738000-125741400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:125738200-125738600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:125738200-125738600	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr8:125738200-125738600	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr8:125738200-125738600	Active TSS	Pancreas	Pancrea
25	chr8:125738200-125738800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:125738200-125738800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:125738200-125738800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:125738200-125738800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:125738200-125738800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr8:125738200-125738800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr8:125738200-125738800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:125738200-125738800	Flanking Active TSS	Fetal Heart	heart
33	chr8:125738200-125738800	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr8:125738200-125738800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr8:125738200-125739000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:125738200-125739000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr8:125738200-125739000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:125738200-125739000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:125738200-125739000	Bivalent/Poised TSS	Thymus	Thymus
40	chr8:125738200-125739000	Flanking Active TSS	Osteobl	bone
41	chr8:125738200-125739200	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr8:125738200-125739200	Flanking Active TSS	NHEK	skin
43	chr8:125738200-125739400	Flanking Active TSS	Placenta	Placenta
44	chr8:125738200-125739800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr8:125738200-125740000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
46	chr8:125738200-125740000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr8:125738200-125740800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:125738200-125741000	Active TSS	Right Ventricle	heart
49	chr8:125738200-125741200	Active TSS	Aorta	Aorta
50	chr8:125738200-125741400	Active TSS	Duodenum Smooth Muscle	Duodenum

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