Variant report

Variant	rs7016171
Chromosome Location	chr8:54759328-54759329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr8:54758957-54759344	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:54758637-54759362	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54757544..54760032-chr8:54922745..54924371,2	MCF-7	breast:
2	chr8:54755445..54757415-chr8:54757467..54760114,2	K562	blood:
3	chr8:54754041..54757436-chr8:54757512..54760857,5	MCF-7	breast:
4	chr8:54755685..54759999-chr8:54761654..54766287,5	MCF-7	breast:
5	chr8:54751933..54754911-chr8:54758498..54760482,2	K562	blood:
6	chr8:54754476..54757676-chr8:54757839..54759715,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000147509	Chromatin interaction
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004228	0.82[ASN][1000 genomes]
rs10504158	0.86[ASN][1000 genomes]
rs11985729	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384797	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483538	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1483539	0.81[ASN][1000 genomes]
rs1483540	0.82[ASN][1000 genomes]
rs1483542	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16919616	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1842982	0.84[ASN][1000 genomes]
rs1842983	0.82[ASN][1000 genomes]
rs1842984	0.82[ASN][1000 genomes]
rs2062226	0.84[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306585	0.96[ASN][1000 genomes]
rs3824121	0.81[ASN][1000 genomes]
rs4518622	0.82[ASN][1000 genomes]
rs57546155	0.85[ASN][1000 genomes]
rs57553178	0.89[EUR][1000 genomes]
rs60696924	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60819522	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61194604	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473894	0.82[EUR][1000 genomes]
rs6994332	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997050	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6998532	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017291	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017967	0.82[ASN][1000 genomes]
rs73680325	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73680341	0.84[ASN][1000 genomes]
rs73680342	0.82[ASN][1000 genomes]
rs73680346	0.89[EUR][1000 genomes]
rs7827611	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7831399	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7846259	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54756600-54762200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:54756600-54764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:54756600-54766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:54758600-54759800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:54758600-54760200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:54758800-54759400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:54758800-54759600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:54758800-54760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:54759000-54759800	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:54759000-54759800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:54759000-54760800	ZNF genes & repeats	GM12878-XiMat	blood
12	chr8:54759200-54764200	Weak transcription	NHEK	skin
13	chr8:54759200-54780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links