Variant report

Variant	rs2605185
Chromosome Location	chr5:114731199-114731200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10036686	1.00[EUR][1000 genomes]
rs10052230	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052335	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10054091	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068248	0.91[EUR][1000 genomes]
rs10072589	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077253	0.91[EUR][1000 genomes]
rs10078844	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10085045	0.91[EUR][1000 genomes]
rs10478229	0.82[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10478230	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10478231	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109015	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109016	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332367	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652178	0.83[AFR][1000 genomes]
rs12652193	0.83[AFR][1000 genomes]
rs12654224	0.83[AFR][1000 genomes]
rs12658313	0.83[AFR][1000 genomes]
rs2004680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2124393	0.81[AFR][1000 genomes]
rs2124394	0.81[AFR][1000 genomes]
rs2124395	0.81[AFR][1000 genomes]
rs2260998	0.81[AFR][1000 genomes]
rs2416408	0.88[AFR][1000 genomes]
rs2416410	0.88[AFR][1000 genomes]
rs2591250	0.80[YRI][hapmap];0.88[AFR][1000 genomes]
rs2591252	0.88[AFR][1000 genomes]
rs2591254	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs2591255	0.88[AFR][1000 genomes]
rs2605186	0.88[AFR][1000 genomes]
rs2605188	0.88[AFR][1000 genomes]
rs2605189	0.88[AFR][1000 genomes]
rs2605191	0.88[AFR][1000 genomes]
rs269536	0.90[CHB][hapmap]
rs269537	0.90[CHB][hapmap];0.81[YRI][hapmap]
rs2925188	0.88[AFR][1000 genomes]
rs2925189	0.88[AFR][1000 genomes]
rs2964548	0.88[AFR][1000 genomes]
rs35561259	0.83[AFR][1000 genomes]
rs3752047	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752048	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752050	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3752051	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752052	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885971	0.91[EUR][1000 genomes]
rs57327202	0.83[AFR][1000 genomes]
rs60523123	0.80[AFR][1000 genomes]
rs62372573	0.83[AFR][1000 genomes]
rs62372574	0.83[AFR][1000 genomes]
rs6865409	0.83[AFR][1000 genomes]
rs6865555	0.83[AFR][1000 genomes]
rs749760	0.91[EUR][1000 genomes]
rs7713623	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959872	0.81[AFR][1000 genomes]
rs9986244	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986246	1.00[EUR][1000 genomes];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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3374677	chr5:114730653-114732626	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
6	esv2481947	chr5:114730681-114732326	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
7	esv9023	chr5:114731068-114731880	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
8	esv3509227	chr5:114731186-114731719	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
9	esv3469746	chr5:114731191-114731704	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114728400-114731200	Enhancers	Stomach Mucosa	stomach
2	chr5:114729000-114731800	Weak transcription	Osteobl	bone
3	chr5:114729200-114732000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:114729400-114731800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:114729400-114734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:114729600-114737000	Weak transcription	NHLF	lung
7	chr5:114730000-114732000	Weak transcription	NHDF-Ad	bronchial
8	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:114730600-114731200	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:114730800-114731200	Enhancers	Fetal Intestine Large	intestine
11	chr5:114730800-114731200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr5:114730800-114731200	Enhancers	Small Intestine	intestine
13	chr5:114731000-114731200	Enhancers	Lung	lung
14	chr5:114731000-114731200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr5:114731000-114731200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:114731000-114731800	Enhancers	Gastric	stomach

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