Variant report

Variant	rs6544993
Chromosome Location	chr2:47723288-47723289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47721974..47724170-chr2:47733810..47735339,2	K562	blood:
2	chr2:47722784..47725396-chr2:47738261..47739798,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11675417	0.86[CHB][hapmap]
rs11677098	0.93[ASN][1000 genomes]
rs11891189	0.93[ASN][1000 genomes]
rs11894352	0.90[EUR][1000 genomes]
rs12232996	0.85[EUR][1000 genomes]
rs12999145	0.90[EUR][1000 genomes]
rs13009248	0.92[ASN][1000 genomes]
rs13019133	0.80[EUR][1000 genomes]
rs13031209	0.97[ASN][1000 genomes]
rs17036614	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036639	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17224332	0.80[EUR][1000 genomes]
rs2042649	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303428	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3771283	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6744343	1.00[CEU][hapmap]
rs6751501	0.85[CHB][hapmap]
rs7581381	0.90[EUR][1000 genomes]
rs7585925	0.90[EUR][1000 genomes]
rs7587143	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:47702800-47727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47714600-47727200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:47717000-47726200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47722200-47725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links