Variant report

Variant	rs2047431
Chromosome Location	chr6:54176565-54176566
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12055413	0.85[AMR][1000 genomes]
rs12055863	0.85[AMR][1000 genomes]
rs12175364	0.85[AMR][1000 genomes]
rs12176182	0.85[AMR][1000 genomes]
rs2291824	0.85[AMR][1000 genomes]
rs2297984	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777637	0.85[AMR][1000 genomes]
rs3777638	0.85[AMR][1000 genomes]
rs3777639	0.85[AMR][1000 genomes]
rs3777641	0.85[AMR][1000 genomes]
rs3777653	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777657	0.82[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798275	0.82[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57943356	1.00[EUR][1000 genomes]
rs60021603	0.85[AMR][1000 genomes]
rs60701944	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9349703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9349704	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9349707	0.85[AMR][1000 genomes]
rs9357797	1.00[AFR][1000 genomes]
rs9357800	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357803	0.85[AMR][1000 genomes]
rs9367563	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9367564	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9367567	0.85[AMR][1000 genomes]
rs9367571	0.85[AMR][1000 genomes]
rs9370280	1.00[AFR][1000 genomes]
rs9370285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9370287	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9370293	0.85[AMR][1000 genomes]
rs9370294	0.85[AMR][1000 genomes]
rs9370297	0.85[AMR][1000 genomes]
rs9370298	0.85[AMR][1000 genomes]
rs9382317	1.00[AFR][1000 genomes]
rs9382320	1.00[AMR][1000 genomes]
rs9382322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9382324	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9382327	0.85[AMR][1000 genomes]
rs9382328	0.85[AMR][1000 genomes]
rs9382339	0.85[AMR][1000 genomes]
rs9382340	0.85[AMR][1000 genomes]
rs9395932	1.00[AMR][1000 genomes]
rs9395933	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9395938	0.85[AMR][1000 genomes]
rs9395940	0.85[AMR][1000 genomes]
rs9395941	0.85[AMR][1000 genomes]
rs9395945	0.85[AMR][1000 genomes]
rs9395946	0.85[AMR][1000 genomes]
rs9395952	0.85[AMR][1000 genomes]
rs9395955	0.85[AMR][1000 genomes]
rs9395956	0.85[AMR][1000 genomes]
rs9395960	0.85[AMR][1000 genomes]
rs9395963	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv885888	chr6:54132353-54266032	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54171800-54176600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr6:54172400-54176600	Active TSS	Duodenum Mucosa	Duodenum
3	chr6:54172800-54176600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr6:54173000-54178000	Active TSS	Fetal Intestine Large	intestine
5	chr6:54173000-54178200	Active TSS	Fetal Intestine Small	intestine
6	chr6:54176000-54177000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:54176200-54177600	Weak transcription	Fetal Kidney	kidney

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