Variant report

Variant	rs4757593
Chromosome Location	chr11:17853231-17853232
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11024415	0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11821847	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1548528	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2107427	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2158395	0.83[CEU][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs2158396	0.81[ASN][1000 genomes]
rs2237943	0.80[CHB][hapmap]
rs2237944	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2237946	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2237948	0.80[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs2299632	0.84[MEX][hapmap];0.82[TSI][hapmap]
rs2299633	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs4757591	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486398	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs6486399	0.81[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7106840	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7115183	0.90[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7124199	0.81[ASN][1000 genomes]
rs718439	0.80[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs765989	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs7929668	0.90[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7932686	1.00[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7935967	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757593	RRAS2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
3	chr11:17833800-17867400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:17835000-17869400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:17835200-17884200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:17838400-17971600	Weak transcription	Gastric	stomach
7	chr11:17838800-17860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:17844800-17862000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:17850400-17866200	Weak transcription	Aorta	Aorta
10	chr11:17851200-17867000	Weak transcription	Primary T cells from cord blood	blood
11	chr11:17851400-17853800	Enhancers	Psoas Muscle	Psoas
12	chr11:17851600-17890800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:17851800-17855400	Weak transcription	Fetal Stomach	stomach
14	chr11:17852200-17853600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:17852200-17867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:17852200-17875800	Weak transcription	Esophagus	oesophagus
17	chr11:17852400-17854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:17852400-17861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:17852800-17853400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:17853000-17870800	Weak transcription	Spleen	Spleen
21	chr11:17853200-17853600	Weak transcription	Pancreas	Pancrea

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