Variant report

Variant	rs17868315
Chromosome Location	chr2:234558275-234558276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234557472..234561426-chr2:234563315..234566249,3	K562	blood:
2	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:
3	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
4	2:234492023-234494396..2:234543708-234558325	GM12878	blood:

Variant related genes	Relation type
ENSG00000228445	Chromatin interaction
ENSG00000228949	Chromatin interaction
ENSG00000227802	Chromatin interaction
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11892031	1.00[ASN][1000 genomes]
rs11893247	1.00[ASN][1000 genomes]
rs17862838	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862850	1.00[CEU][hapmap]
rs17862858	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17863755	1.00[CEU][hapmap]
rs17863757	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863763	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863777	1.00[CEU][hapmap]
rs17863783	1.00[CEU][hapmap]
rs17863786	1.00[CEU][hapmap]
rs17864667	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864687	1.00[CEU][hapmap]
rs17868304	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868309	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868321	1.00[CEU][hapmap]
rs17868327	1.00[CEU][hapmap]
rs28948068	1.00[CEU][hapmap]
rs28948382	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28948385	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs28967009	1.00[ASN][1000 genomes]
rs28969701	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28969981	1.00[ASN][1000 genomes]
rs4343459	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402757	1.00[ASN][1000 genomes]
rs45576241	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45586436	1.00[ASN][1000 genomes]
rs4622711	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569014	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3419326	chr2:234498411-234560470	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
5	esv2762307	chr2:234504523-234561979	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
6	nsv1007561	chr2:234507291-234560670	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv536181	chr2:234507291-234560670	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv961572	chr2:234526394-234559587	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv584704	chr2:234526680-234569137	Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234551800-234559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234555000-234559600	Weak transcription	Rectal Mucosa Donor 29	rectum

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