Variant report

Variant	rs11207957
Chromosome Location	chr1:62773907-62773908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493320	0.91[ASN][1000 genomes]
rs12058486	0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs12063531	1.00[CHD][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]
rs12065844	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12078087	0.89[ASN][1000 genomes]
rs12079207	0.91[ASN][1000 genomes]
rs12082238	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs12085325	0.87[ASN][1000 genomes]
rs12718429	0.91[ASN][1000 genomes]
rs12724349	0.91[ASN][1000 genomes]
rs12760226	0.82[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12760895	1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs2296518	0.91[ASN][1000 genomes]
rs2477872	0.86[ASN][1000 genomes]
rs2666487	0.86[ASN][1000 genomes]
rs2666488	0.86[ASN][1000 genomes]
rs2765258	0.86[ASN][1000 genomes]
rs2765261	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs2765263	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs34752481	0.86[ASN][1000 genomes]
rs7520614	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs765691	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs765692	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs912894	0.91[ASN][1000 genomes]
rs912895	0.91[ASN][1000 genomes]
rs912896	1.00[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv871893	chr1:62767953-62819067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871250	chr1:62769887-62799451	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv525191	chr1:62773703-62804719	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11207957	DAB1	cis	cerebellum	SCAN
rs11207957	L1TD1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62767600-62780600	Weak transcription	HepG2	liver
2	chr1:62768000-62776800	Weak transcription	Fetal Kidney	kidney
3	chr1:62770800-62775600	Weak transcription	Gastric	stomach
4	chr1:62772400-62776000	Enhancers	Pancreas	Pancrea
5	chr1:62772600-62774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:62772600-62776400	Enhancers	HMEC	breast
7	chr1:62772600-62776600	Enhancers	Placenta	Placenta
8	chr1:62772800-62776200	Enhancers	Adipose Nuclei	Adipose
9	chr1:62773200-62774200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:62773200-62774400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr1:62773200-62774600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:62773200-62774800	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:62773200-62776000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:62773200-62776200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:62773200-62776200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:62773200-62776200	Enhancers	NHEK	skin
17	chr1:62773200-62778600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:62773400-62776600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:62773400-62780800	Weak transcription	Fetal Lung	lung
20	chr1:62773600-62774200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:62773600-62774200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:62773600-62774400	Enhancers	Esophagus	oesophagus
23	chr1:62773600-62774400	Flanking Active TSS	Hela-S3	cervix
24	chr1:62773800-62774800	Bivalent Enhancer	Fetal Stomach	stomach

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