Variant report

Variant	rs4530361
Chromosome Location	chr2:234590041-234590042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10167119	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168155	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168333	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168416	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10171367	0.84[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10173355	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10175809	0.84[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10178992	0.91[CEU][hapmap]
rs10179094	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10180090	0.82[EUR][1000 genomes]
rs10189426	0.87[ASN][1000 genomes]
rs10197460	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203266	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10445704	0.84[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1105879	0.92[ASN][1000 genomes]
rs1105880	0.92[ASN][1000 genomes]
rs11673726	0.91[CEU][hapmap]
rs11680450	0.83[CEU][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11692021	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692664	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11888459	0.91[CEU][hapmap]
rs11891311	0.91[CEU][hapmap]
rs11902131	0.84[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12615708	0.87[ASN][1000 genomes]
rs12623271	0.84[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13002774	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13015720	0.83[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875263	0.91[CEU][hapmap]
rs1983023	1.00[CEU][hapmap]
rs2018985	1.00[CEU][hapmap]
rs2070959	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35984508	0.86[ASN][1000 genomes]
rs3806598	0.87[ASN][1000 genomes]
rs4261716	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338954	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347832	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4553819	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45615240	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724485	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725478	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6736508	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6736743	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753320	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753569	0.83[CEU][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6759892	0.83[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7349250	0.87[ASN][1000 genomes]
rs7563561	0.83[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564935	0.91[CEU][hapmap]
rs7571915	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7577677	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583278	1.00[CEU][hapmap]
rs7586110	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592281	0.86[ASN][1000 genomes]
rs7604115	0.91[CEU][hapmap]
rs7608175	0.83[CEU][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869283	1.00[CEU][hapmap]

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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3340677	chr2:234580879-234591324	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 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	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:234588000-234593000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234588600-234597000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:234589000-234590800	Enhancers	Liver	Liver
5	chr2:234589400-234590600	Weak transcription	Esophagus	oesophagus
6	chr2:234589400-234590800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:234589800-234590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:234589800-234593000	Weak transcription	A549	lung
9	chr2:234590000-234597800	Weak transcription	Colonic Mucosa	Colon

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