Variant report

Variant	rs17024771
Chromosome Location	chr2:40223766-40223767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1117016	0.80[ASN][1000 genomes]
rs11690334	0.89[CHB][hapmap]
rs11903990	0.83[EUR][1000 genomes]
rs12105254	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12473190	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12475578	0.89[EUR][1000 genomes]
rs12712680	0.80[ASN][1000 genomes]
rs13025594	0.89[CHB][hapmap]
rs17024886	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6705665	0.83[EUR][1000 genomes]
rs6705905	0.82[EUR][1000 genomes]
rs6719727	0.83[EUR][1000 genomes]
rs6742932	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6746945	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568579	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7586183	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7595517	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873897	chr2:40139250-40225253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv869668	chr2:40141079-40249854	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1003920	chr2:40141776-40245464	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1000423	chr2:40143646-40245464	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv456396	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581498	chr2:40154844-40231282	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv581499	chr2:40154844-40241868	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873898	chr2:40156882-40246716	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv873899	chr2:40161168-40281964	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1009532	chr2:40165606-40291224	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv535653	chr2:40165606-40291224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv873900	chr2:40202505-40278909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv962063	chr2:40205436-40263295	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	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
20	nsv519483	chr2:40207338-40235588	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	nsv873901	chr2:40207338-40264861	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1004783	chr2:40216463-40245464	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	nsv1003335	chr2:40216620-40245464	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv1009574	chr2:40219238-40245464	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40218400-40225200	Weak transcription	Fetal Kidney	kidney
2	chr2:40219000-40223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:40219200-40224400	Weak transcription	Osteobl	bone
4	chr2:40220800-40225000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:40220800-40225200	Enhancers	HMEC	breast
6	chr2:40221000-40225000	Enhancers	NHEK	skin
7	chr2:40221400-40225000	Enhancers	HSMM	muscle
8	chr2:40221400-40225200	Enhancers	Dnd41	blood
9	chr2:40222000-40224000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:40222000-40224200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:40222800-40224600	Enhancers	Hela-S3	cervix
12	chr2:40223200-40224600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:40223400-40223800	Enhancers	Fetal Thymus	thymus
14	chr2:40223600-40223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40223600-40224000	Enhancers	HSMMtube	muscle
16	chr2:40223600-40224200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40223600-40224600	Enhancers	HUVEC	blood vessel
18	chr2:40223600-40225000	Enhancers	NH-A	brain

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