Variant report

Variant	rs11687401
Chromosome Location	chr2:48501505-48501506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10195717	0.81[CEU][hapmap]
rs11674317	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11676925	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11677205	0.80[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11680657	0.83[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes]
rs11687276	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11687461	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes]
rs11695923	0.83[EUR][1000 genomes]
rs13398456	0.83[CEU][hapmap]
rs17325209	0.82[EUR][1000 genomes]
rs17397094	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17397449	0.80[CEU][hapmap]
rs2014675	0.83[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes]
rs6747738	0.83[EUR][1000 genomes]
rs952468	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.83[EUR][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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48497600-48502400	Weak transcription	Psoas Muscle	Psoas
2	chr2:48497800-48503600	Weak transcription	Liver	Liver
3	chr2:48498000-48503800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:48498600-48501600	Enhancers	GM12878-XiMat	blood
5	chr2:48500600-48501800	Enhancers	K562	blood
6	chr2:48501200-48501600	Enhancers	NHEK	skin

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