Variant report

Variant	rs17121967
Chromosome Location	chr1:85602181-85602182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85600744..85602624-chr1:85606340..85608066,2	K562	blood:
2	chr1:85596438..85598886-chr1:85599914..85602285,2	K562	blood:
3	chr1:85600190..85603293-chr1:85664973..85667718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11161568	1.00[EUR][1000 genomes]
rs58278399	1.00[EUR][1000 genomes]
rs59078755	1.00[EUR][1000 genomes]
rs61753571	1.00[EUR][1000 genomes]
rs61753572	1.00[EUR][1000 genomes]
rs6656799	1.00[EUR][1000 genomes]
rs6670564	1.00[EUR][1000 genomes]
rs72952681	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85594800-85614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:85598400-85603600	Weak transcription	Right Atrium	heart
3	chr1:85598400-85608400	Weak transcription	Pancreas	Pancrea
4	chr1:85598600-85608600	Weak transcription	Left Ventricle	heart
5	chr1:85599400-85602200	Enhancers	Hela-S3	cervix
6	chr1:85599400-85604400	Enhancers	Fetal Intestine Large	intestine
7	chr1:85599600-85603800	Enhancers	Fetal Intestine Small	intestine
8	chr1:85599800-85602600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:85599800-85602800	Weak transcription	Fetal Heart	heart
10	chr1:85600200-85602200	Enhancers	Placenta	Placenta
11	chr1:85600200-85604000	Enhancers	Liver	Liver
12	chr1:85600600-85603800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:85600800-85602200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:85600800-85602600	Weak transcription	Spleen	Spleen
15	chr1:85601000-85608400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:85601200-85602400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:85601200-85604000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:85601400-85602600	Weak transcription	Fetal Brain Male	brain
19	chr1:85601400-85602800	Weak transcription	HepG2	liver
20	chr1:85601400-85603000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:85601400-85603600	Weak transcription	Fetal Lung	lung
22	chr1:85601600-85602200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:85601600-85603400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85601800-85603000	Enhancers	Colonic Mucosa	Colon
25	chr1:85602000-85602200	Enhancers	Gastric	stomach
26	chr1:85602000-85602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:85602000-85602600	Enhancers	Lung	lung
28	chr1:85602000-85602800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr1:85602000-85603200	Enhancers	Fetal Kidney	kidney
30	chr1:85602000-85603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:85602000-85603400	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