Variant report

Variant	rs17466980
Chromosome Location	chr2:40641410-40641411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11681856	0.83[EUR][1000 genomes]
rs11683359	0.83[EUR][1000 genomes]
rs11684372	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55929619	0.84[EUR][1000 genomes]
rs6705173	0.95[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6709329	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6742827	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40634800-40644800	Weak transcription	Left Ventricle	heart
3	chr2:40634800-40645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:40635800-40643800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:40635800-40652600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40636000-40645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:40636200-40646000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:40637000-40645600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40637200-40645600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:40637200-40646000	Weak transcription	Right Ventricle	heart
11	chr2:40637200-40649000	Weak transcription	Dnd41	blood
12	chr2:40637400-40643600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40639800-40643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:40639800-40643600	Weak transcription	HMEC	breast
15	chr2:40639800-40643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:40640000-40645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:40640000-40645800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:40640000-40646600	Weak transcription	Osteobl	bone
19	chr2:40640000-40647600	Weak transcription	NHLF	lung
20	chr2:40640200-40643400	Weak transcription	NHEK	skin
21	chr2:40640200-40644800	Enhancers	Fetal Heart	heart
22	chr2:40640600-40642800	Strong transcription	HSMM	muscle
23	chr2:40641200-40647600	Weak transcription	Fetal Kidney	kidney
24	chr2:40641400-40642000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links