Variant report

Variant	rs10175754
Chromosome Location	chr2:31621598-31621599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31619044..31622000-chr2:31622543..31624849,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10199855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888215	1.00[ASN][1000 genomes]
rs11892663	1.00[ASN][1000 genomes]
rs11893761	1.00[ASN][1000 genomes]
rs11895133	0.93[CEU][hapmap]
rs11898845	1.00[ASN][1000 genomes]
rs13418515	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17011422	1.00[ASN][1000 genomes]
rs17011431	1.00[ASN][1000 genomes]
rs206857	0.96[GIH][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62141163	1.00[ASN][1000 genomes]
rs62141164	1.00[ASN][1000 genomes]
rs62141165	1.00[ASN][1000 genomes]
rs62141166	1.00[ASN][1000 genomes]
rs62141174	1.00[ASN][1000 genomes]
rs62141225	1.00[ASN][1000 genomes]
rs62142956	1.00[ASN][1000 genomes]
rs62142957	1.00[ASN][1000 genomes]
rs62142958	1.00[ASN][1000 genomes]
rs62144961	1.00[ASN][1000 genomes]
rs62144962	1.00[ASN][1000 genomes]
rs62144963	1.00[ASN][1000 genomes]
rs62144964	1.00[ASN][1000 genomes]
rs62144965	1.00[ASN][1000 genomes]
rs6713694	1.00[ASN][1000 genomes]
rs6738435	1.00[ASN][1000 genomes]
rs6759319	1.00[ASN][1000 genomes]
rs72790669	1.00[ASN][1000 genomes]
rs72790675	1.00[ASN][1000 genomes]
rs72794605	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10175754	DPY30	cis	parietal	SCAN
rs10175754	GTF3C2	cis	parietal	SCAN
rs10175754	ELAVL2	trans	cerebellum	SCAN
rs10175754	NRBP1	cis	cerebellum	SCAN
rs10175754	PPP1CB	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:31574600-31636600	Weak transcription	Colonic Mucosa	Colon
4	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:31599600-31636600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:31609400-31623800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31611800-31624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:31617800-31624200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:31618000-31625400	Strong transcription	Fetal Intestine Large	intestine
10	chr2:31618000-31627000	Strong transcription	Fetal Intestine Small	intestine
11	chr2:31619000-31624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:31619600-31621600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:31619600-31622000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:31619800-31622000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:31619800-31624600	Genic enhancers	HMEC	breast
16	chr2:31620000-31622600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:31620000-31624600	Genic enhancers	NHEK	skin
18	chr2:31620000-31627600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:31620200-31624000	Weak transcription	Esophagus	oesophagus
20	chr2:31620200-31624400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:31620400-31624000	Weak transcription	HSMM	muscle
22	chr2:31620600-31624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:31620800-31623400	Weak transcription	A549	lung
24	chr2:31620800-31623800	Weak transcription	Osteobl	bone
25	chr2:31620800-31627400	Strong transcription	Liver	Liver
26	chr2:31621000-31623600	Weak transcription	NHDF-Ad	bronchial
27	chr2:31621000-31623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:31621200-31621800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:31621200-31621800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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