Variant report

Variant	rs11902352
Chromosome Location	chr2:178446509-178446510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178342501..178344223-chr2:178445139..178447094,2	K562	blood:
2	chr2:178310253..178311954-chr2:178445116..178447821,2	K562	blood:
3	chr2:178437853..178439568-chr2:178445125..178447970,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10171135	1.00[JPT][hapmap]
rs10180514	1.00[JPT][hapmap]
rs10181259	1.00[JPT][hapmap]
rs10184488	1.00[JPT][hapmap]
rs10190306	1.00[JPT][hapmap]
rs10191015	1.00[JPT][hapmap]
rs10497505	1.00[JPT][hapmap]
rs10497506	1.00[JPT][hapmap]
rs10497509	1.00[JPT][hapmap]
rs10754987	1.00[JPT][hapmap]
rs10754988	1.00[JPT][hapmap]
rs10803911	1.00[JPT][hapmap]
rs10803912	1.00[JPT][hapmap]
rs10930788	1.00[JPT][hapmap]
rs10930793	1.00[JPT][hapmap]
rs10930796	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1106075	1.00[CHB][hapmap]
rs11679519	1.00[JPT][hapmap]
rs11889272	1.00[JPT][hapmap]
rs11901288	1.00[ASN][1000 genomes]
rs12478545	1.00[JPT][hapmap]
rs13014417	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13431091	1.00[JPT][hapmap]
rs1348851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1374438	1.00[JPT][hapmap]
rs1446837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1446838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1530965	1.00[JPT][hapmap]
rs16865191	1.00[JPT][hapmap]
rs16865322	1.00[JPT][hapmap]
rs16865324	1.00[JPT][hapmap]
rs16865337	1.00[JPT][hapmap]
rs16865342	0.82[ASN][1000 genomes]
rs16865343	1.00[CHB][hapmap]
rs16865351	0.82[ASN][1000 genomes]
rs16865357	0.82[ASN][1000 genomes]
rs16865359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865365	0.82[ASN][1000 genomes]
rs16865376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865379	0.82[ASN][1000 genomes]
rs16865385	0.82[ASN][1000 genomes]
rs16865425	0.82[EUR][1000 genomes]
rs16865426	0.82[EUR][1000 genomes]
rs16865434	0.92[EUR][1000 genomes]
rs16865451	1.00[CHB][hapmap]
rs16865493	1.00[CHB][hapmap]
rs16865498	1.00[CHB][hapmap]
rs16865576	1.00[CHB][hapmap]
rs1867905	1.00[JPT][hapmap]
rs1901823	1.00[JPT][hapmap]
rs1965180	1.00[ASN][1000 genomes]
rs2167902	1.00[JPT][hapmap]
rs2218575	1.00[JPT][hapmap]
rs2293475	1.00[JPT][hapmap]
rs2364851	1.00[JPT][hapmap]
rs2364852	1.00[JPT][hapmap]
rs3754989	1.00[JPT][hapmap]
rs3813260	1.00[JPT][hapmap]
rs4243389	1.00[JPT][hapmap]
rs4402804	1.00[JPT][hapmap]
rs4585065	1.00[JPT][hapmap]
rs4893829	1.00[JPT][hapmap]
rs4893940	1.00[JPT][hapmap]
rs4893942	1.00[JPT][hapmap]
rs56824751	0.82[EUR][1000 genomes]
rs58393588	0.82[EUR][1000 genomes]
rs59466016	1.00[ASN][1000 genomes]
rs59817099	0.82[EUR][1000 genomes]
rs60102399	0.82[ASN][1000 genomes]
rs60563840	0.82[EUR][1000 genomes]
rs6433666	1.00[JPT][hapmap]
rs6433677	1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6712695	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6725331	1.00[JPT][hapmap]
rs6731684	1.00[CHB][hapmap]
rs6732250	1.00[JPT][hapmap]
rs6737342	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744488	1.00[JPT][hapmap]
rs6748696	1.00[CHB][hapmap]
rs6752528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6756948	1.00[CHB][hapmap]
rs6760470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036606	0.82[EUR][1000 genomes]
rs73036610	0.82[EUR][1000 genomes]
rs7557924	1.00[ASN][1000 genomes]
rs7570297	1.00[JPT][hapmap]
rs7585952	1.00[JPT][hapmap]
rs7588049	1.00[JPT][hapmap]
rs7594073	1.00[JPT][hapmap]
rs7601132	1.00[JPT][hapmap]
rs7604668	1.00[JPT][hapmap]
rs935426	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11902352	CEP57	trans	lymphoblastoid	RTeQTL
rs11902352	HEATR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178438000-178449800	Weak transcription	Pancreas	Pancrea
2	chr2:178445000-178457800	Weak transcription	Right Ventricle	heart
3	chr2:178445200-178450200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:178445800-178449800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178445800-178449800	Weak transcription	Right Atrium	heart
6	chr2:178445800-178450000	Weak transcription	Left Ventricle	heart
7	chr2:178446000-178447800	Weak transcription	HepG2	liver
8	chr2:178446000-178450200	Weak transcription	Rectal Smooth Muscle	rectum

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