Variant report

Variant	rs7016031
Chromosome Location	chr8:125681849-125681850
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125681327..125684410-chr8:125827767..125830045,3	K562	blood:
2	chr8:125681064..125685199-chr8:125693703..125697375,3	MCF-7	breast:
3	chr8:125675687..125677543-chr8:125681437..125683937,2	K562	blood:
4	chr8:125663277..125665200-chr8:125679495..125682417,2	K562	blood:
5	chr8:125680861..125685703-chr8:125685975..125688840,5	MCF-7	breast:
6	chr8:125680388..125682782-chr8:125738367..125741064,2	MCF-7	breast:
7	chr8:125674410..125676549-chr8:125679730..125683032,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11774868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870917	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870918	0.87[LWK][hapmap];0.85[MEX][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs60858030	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125675400-125685000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:125676400-125685200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:125676600-125683400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:125676600-125685200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:125677000-125682400	Weak transcription	NHDF-Ad	bronchial
8	chr8:125677000-125685600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:125677200-125682000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:125677200-125685600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:125678600-125684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:125678800-125686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:125679000-125684200	Weak transcription	K562	blood
15	chr8:125679000-125685000	Weak transcription	Placenta	Placenta
16	chr8:125679200-125683400	Weak transcription	Pancreas	Pancrea
17	chr8:125679600-125682200	Weak transcription	Gastric	stomach
18	chr8:125679600-125684800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:125679600-125685400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:125680000-125685800	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:125680200-125682000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:125680200-125683800	Enhancers	Right Ventricle	heart
23	chr8:125680400-125682600	Flanking Active TSS	HepG2	liver
24	chr8:125680400-125682800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:125680400-125685000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:125680600-125682400	Enhancers	Fetal Thymus	thymus
27	chr8:125680800-125682200	Enhancers	Brain Germinal Matrix	brain
28	chr8:125680800-125682200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:125680800-125682200	Weak transcription	Left Ventricle	heart
30	chr8:125680800-125682200	Weak transcription	Lung	lung
31	chr8:125680800-125683400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:125680800-125684600	Weak transcription	Spleen	Spleen
33	chr8:125680800-125686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:125680800-125686400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr8:125680800-125686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:125681000-125682000	Enhancers	Brain Angular Gyrus	brain
37	chr8:125681000-125682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:125681000-125685000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:125681000-125685600	Weak transcription	NHEK	skin
40	chr8:125681200-125682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:125681200-125682000	Enhancers	Colon Smooth Muscle	Colon
42	chr8:125681200-125682400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:125681200-125682400	Weak transcription	Right Atrium	heart
44	chr8:125681200-125682600	Enhancers	Brain Anterior Caudate	brain
45	chr8:125681200-125686000	Weak transcription	Esophagus	oesophagus
46	chr8:125681200-125687000	Enhancers	Primary B cells from cord blood	blood
47	chr8:125681200-125687800	Enhancers	Fetal Heart	heart
48	chr8:125681200-125701000	Weak transcription	HMEC	breast
49	chr8:125681400-125682000	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:125681400-125682600	Enhancers	Fetal Intestine Large	intestine

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