Variant report

Variant	rs7017967
Chromosome Location	chr8:54797927-54797928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54797255..54799782-chr8:54801254..54803221,2	MCF-7	breast:
2	chr8:54754262..54756159-chr8:54796079..54798588,2	MCF-7	breast:
3	chr8:54795606..54798842-chr8:55046192..55048943,3	K562	blood:
4	chr8:54770059..54771983-chr8:54797051..54798907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504158	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11985729	0.80[ASN][1000 genomes]
rs1384797	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483538	0.93[ASN][1000 genomes]
rs1483539	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1483540	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1483542	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919616	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1842982	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842983	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1842984	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2062226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306584	0.94[EUR][1000 genomes]
rs4518622	0.94[ASN][1000 genomes]
rs57546155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57553178	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58652215	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60696924	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60819522	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61194604	0.82[ASN][1000 genomes]
rs61231337	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61433056	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6994332	0.82[ASN][1000 genomes]
rs6997050	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6998532	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016171	0.82[ASN][1000 genomes]
rs7017291	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73680325	0.94[EUR][1000 genomes]
rs73680341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73680346	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827611	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831399	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846259	0.94[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54795200-54798200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:54795200-54798400	Weak transcription	HSMMtube	muscle
3	chr8:54795400-54798200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:54795400-54799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:54795600-54798000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:54795600-54798800	Enhancers	HMEC	breast
7	chr8:54795600-54801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54796200-54799400	Enhancers	HUVEC	blood vessel
9	chr8:54796400-54799000	Flanking Active TSS	GM12878-XiMat	blood
10	chr8:54796600-54798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:54796600-54798400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:54796800-54798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:54796800-54799800	Enhancers	HSMM	muscle
14	chr8:54797000-54798000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:54797000-54799000	Flanking Active TSS	Hela-S3	cervix
16	chr8:54797000-54799400	Enhancers	Osteobl	bone
17	chr8:54797200-54798000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr8:54797200-54798800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:54797400-54798000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr8:54797400-54798000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr8:54797400-54798000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:54797600-54798000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:54797600-54798000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:54797600-54798000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:54797600-54798000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:54797600-54798200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:54797600-54798400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54797600-54798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:54797600-54798800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:54797600-54798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54797600-54798800	Enhancers	NHEK	skin
32	chr8:54797800-54798000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:54797800-54798000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr8:54797800-54798000	Flanking Active TSS	NH-A	brain
35	chr8:54797800-54798000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr8:54797800-54798000	Flanking Active TSS	NHLF	lung
37	chr8:54797800-54798200	Active TSS	A549	lung
38	chr8:54797800-54798600	Weak transcription	HepG2	liver
39	chr8:54797800-54799600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links