Variant report

Variant	rs277411
Chromosome Location	chr5:41902711-41902712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
2	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
3	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:
4	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6881938	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72746987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9292827	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv327668	chr5:41901383-41909830	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv3469161	chr5:41901765-41903841	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3508784	chr5:41901813-41903820	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3469160	chr5:41901819-41903820	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3469164	chr5:41901829-41903802	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
11	esv3508788	chr5:41901833-41903785	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	esv3469162	chr5:41901853-41903778	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	esv3508789	chr5:41901860-41903770	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv13889	chr5:41901871-41903659	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3469159	chr5:41901905-41903722	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv3508787	chr5:41901915-41903724	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	esv3469165	chr5:41901920-41903719	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
18	esv3508790	chr5:41901920-41903719	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	nsv597881	chr5:41901966-41903583	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
21	nsv597882	chr5:41902330-41903101	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	nsv597883	chr5:41902330-41903583	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	nsv597884	chr5:41902622-41903583	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	11 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	chr5:41899600-41903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:41900000-41903800	Weak transcription	Gastric	stomach
3	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links