Variant report

Variant	rs11721899
Chromosome Location	chr4:186799239-186799240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1026361	0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1026362	0.82[CHB][hapmap];0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs1031506	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11132357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11132358	0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11132359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11132360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11132361	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11722545	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11723186	0.91[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs11725663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502204	0.90[ASW][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12503031	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12643549	0.90[ASW][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12643665	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13110782	0.92[CHD][hapmap];0.85[ASN][1000 genomes]
rs13114501	0.88[ASN][1000 genomes]
rs13120232	0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs13132627	0.86[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13138996	0.85[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs13139354	0.88[ASN][1000 genomes]
rs13144263	0.91[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs13144444	0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs13150309	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2168165	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2648109	0.91[ASN][1000 genomes]
rs2648110	0.91[ASN][1000 genomes]
rs34122211	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34457125	0.89[ASN][1000 genomes]
rs34458168	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34520754	0.84[AFR][1000 genomes]
rs34546820	0.93[ASN][1000 genomes]
rs34712366	0.82[ASN][1000 genomes]
rs35173472	0.88[ASN][1000 genomes]
rs35318302	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35805502	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35820308	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35834071	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs36076360	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4343763	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4861687	0.88[ASN][1000 genomes]
rs4861688	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4862581	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4862582	0.94[ASN][1000 genomes]
rs4862583	0.91[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4862584	0.91[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55737156	0.89[ASN][1000 genomes]
rs55926227	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55990211	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56086066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218413	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56370835	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56977523	0.81[ASN][1000 genomes]
rs62335022	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830105	0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs6853037	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs72707664	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11721899	CDKN2AIP	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:186791000-186799600	Weak transcription	Left Ventricle	heart
3	chr4:186791000-186799800	Weak transcription	Pancreas	Pancrea
4	chr4:186791800-186802600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:186793000-186801000	Weak transcription	Spleen	Spleen
6	chr4:186794200-186801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:186795800-186801600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:186796000-186801800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:186796600-186801200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:186796600-186801200	Weak transcription	HSMMtube	muscle
11	chr4:186796800-186801800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:186796800-186802000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:186797000-186801400	Weak transcription	NHDF-Ad	bronchial
14	chr4:186797000-186804800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:186797400-186801800	Weak transcription	Fetal Heart	heart
16	chr4:186797800-186801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:186797800-186801800	Weak transcription	Osteobl	bone

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