Variant report

Variant	rs6760101
Chromosome Location	chr2:53874369-53874370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53863876..53866246-chr2:53873113..53875135,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10185375	0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs10210726	0.85[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs12612589	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12612737	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12612895	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12613682	0.85[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs12614610	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12616124	0.87[EUR][1000 genomes]
rs12617315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12617360	0.82[EUR][1000 genomes]
rs12617668	0.89[EUR][1000 genomes]
rs12618833	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12621557	0.87[EUR][1000 genomes]
rs12621635	0.85[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs13415842	0.85[EUR][1000 genomes]
rs13421512	0.84[EUR][1000 genomes]
rs17045125	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17045215	0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs2009149	0.93[EUR][1000 genomes]
rs2058953	0.89[ASN][1000 genomes]
rs2287344	0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs2287345	0.85[JPT][hapmap]
rs2287512	0.86[ASN][1000 genomes]
rs2357491	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2357492	0.86[ASN][1000 genomes]
rs35833242	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770401	0.85[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs3770410	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770412	0.84[ASN][1000 genomes]
rs3770415	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4361164	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56189833	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66684820	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67073722	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6716301	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs68123661	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595713	0.85[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs991599	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs994484	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs997644	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874147	chr2:53772561-53886799	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53873200-53874400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:53873200-53874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:53873200-53874600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:53873400-53874400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:53873400-53874600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:53873600-53874400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:53873800-53874400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:53873800-53874600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea

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