Variant report

Variant	rs17137708
Chromosome Location	chr5:114715677-114715678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10477531	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11241322	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11740600	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11745205	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13162208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17137667	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17383865	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2016888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198712	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925170	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2925172	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs2963747	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2963749	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2963758	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs35389100	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887728	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7714928	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs897478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3470654	chr5:114706116-114721234	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3470655	chr5:114706116-114721234	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv1025594	chr5:114706443-114721081	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv441963	chr5:114706443-114721085	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv34270	chr5:114709101-114721101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv34634	chr5:114709137-114723044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv34713	chr5:114709137-114723044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
2	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
3	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:114712800-114717400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:114713000-114716200	Enhancers	GM12878-XiMat	blood
6	chr5:114713200-114716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:114713200-114716400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:114713600-114716200	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:114713800-114716200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr5:114713800-114717000	Weak transcription	HUVEC	blood vessel
11	chr5:114713800-114719400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:114714000-114715800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:114714000-114716800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:114714000-114717200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:114714000-114717200	Weak transcription	Osteobl	bone
16	chr5:114714200-114717400	Weak transcription	NHLF	lung
17	chr5:114714600-114715800	Weak transcription	Esophagus	oesophagus
18	chr5:114714600-114715800	Weak transcription	Psoas Muscle	Psoas
19	chr5:114714600-114715800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:114714600-114716000	Enhancers	Fetal Intestine Small	intestine
21	chr5:114714800-114715800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:114714800-114716000	Weak transcription	Small Intestine	intestine
23	chr5:114714800-114716400	Enhancers	Stomach Mucosa	stomach
24	chr5:114714800-114717000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:114714800-114717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:114715000-114716000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:114715000-114716000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:114715000-114716000	Enhancers	Fetal Kidney	kidney
29	chr5:114715000-114716200	Enhancers	HMEC	breast
30	chr5:114715200-114716200	Enhancers	Fetal Muscle Leg	muscle
31	chr5:114715200-114717200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:114715400-114716000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr5:114715600-114715800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:114715600-114715800	Enhancers	HSMM	muscle
35	chr5:114715600-114715800	Enhancers	NHDF-Ad	bronchial
36	chr5:114715600-114716000	Flanking Active TSS	NHEK	skin

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