Variant report

Variant	rs13101722
Chromosome Location	chr4:120555975-120555976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10006525	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs10006706	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs10009566	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10009626	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10012252	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10013305	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs10017335	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs10018280	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs10019674	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs10030660	0.91[JPT][hapmap]
rs10031483	0.91[JPT][hapmap]
rs10050092	0.84[JPT][hapmap]
rs1010739	0.91[JPT][hapmap]
rs1010740	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs10518328	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs10518329	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]
rs10518336	0.82[CHB][hapmap]
rs11098531	0.91[JPT][hapmap]
rs11098534	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1155576	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs1155577	0.83[CHB][hapmap]
rs11723090	0.91[JPT][hapmap]
rs11729521	0.90[JPT][hapmap];0.85[TSI][hapmap]
rs11731756	0.91[JPT][hapmap]
rs11734241	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs11737395	0.91[JPT][hapmap]
rs11933966	0.90[JPT][hapmap]
rs11935596	0.91[JPT][hapmap]
rs11947234	0.91[JPT][hapmap]
rs12498599	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs12502423	0.90[JPT][hapmap];0.85[TSI][hapmap]
rs12504773	0.85[ASN][1000 genomes]
rs12505735	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs12507964	0.90[JPT][hapmap]
rs12508504	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs12510138	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs12512646	0.83[TSI][hapmap]
rs13104219	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs13122709	0.85[ASN][1000 genomes]
rs13128602	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs13134517	0.91[CHB][hapmap]
rs13134665	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs13149407	0.86[JPT][hapmap]
rs1383532	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs1480931	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs1480933	0.87[CHB][hapmap]
rs1480936	0.85[JPT][hapmap];0.88[TSI][hapmap]
rs1480940	0.90[JPT][hapmap];0.88[TSI][hapmap]
rs1552092	0.90[JPT][hapmap];0.90[TSI][hapmap]
rs1552095	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs17006190	0.91[JPT][hapmap]
rs17050695	0.90[CEU][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs2127821	0.90[JPT][hapmap]
rs2127823	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs2170276	0.90[JPT][hapmap]
rs2291185	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs2306456	0.91[JPT][hapmap]
rs2389803	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs2389809	0.90[JPT][hapmap]
rs2389874	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389879	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389880	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28535956	0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs28578366	0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs28787668	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28850368	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2892848	0.91[JPT][hapmap];0.83[TSI][hapmap]
rs34835603	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733519	0.89[JPT][hapmap]
rs3733524	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs3736115	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs3756156	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs3775841	0.90[JPT][hapmap]
rs3775843	0.91[JPT][hapmap]
rs3775844	0.91[JPT][hapmap]
rs3775845	0.91[JPT][hapmap]
rs3775848	0.91[JPT][hapmap]
rs3775852	0.91[JPT][hapmap]
rs3806808	0.84[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3822192	0.90[JPT][hapmap];0.88[TSI][hapmap]
rs3822194	0.91[JPT][hapmap]
rs3822195	0.90[JPT][hapmap]
rs41464847	0.91[CHB][hapmap]
rs4833624	0.83[TSI][hapmap]
rs58583086	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59867181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534139	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs6534149	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832740	0.90[JPT][hapmap];0.90[TSI][hapmap]
rs6834796	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs6835635	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs6843229	0.90[CHB][hapmap]
rs6844263	0.86[CHB][hapmap]
rs6848389	0.90[JPT][hapmap];0.85[TSI][hapmap]
rs6849171	0.91[JPT][hapmap]
rs6849561	0.91[JPT][hapmap];0.85[TSI][hapmap]
rs6853998	0.91[JPT][hapmap]
rs6855918	0.80[EUR][1000 genomes]
rs7659501	0.91[JPT][hapmap]
rs7665125	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7676296	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7680914	0.85[ASN][1000 genomes]
rs7681544	0.91[JPT][hapmap]
rs7687843	0.91[JPT][hapmap]
rs7688802	0.90[JPT][hapmap]
rs7692994	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7693919	0.80[EUR][1000 genomes]
rs7695292	0.85[ASN][1000 genomes]
rs7695620	0.91[JPT][hapmap]
rs7699064	0.91[JPT][hapmap];0.88[TSI][hapmap]
rs9884402	0.91[JPT][hapmap]
rs9997631	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs9998585	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3466099	chr4:120552743-120556240	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3466100	chr4:120552768-120556201	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3466098	chr4:120552770-120556212	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3466102	chr4:120552788-120556162	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3466101	chr4:120552835-120556137	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv17708	chr4:120552839-120556129	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3466103	chr4:120552849-120556136	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13101722	RP11-33B1.1	cis	Esophagus Mucosa	GTEx
rs13101722	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs13101722	RP11-33B1.1	cis	Heart Left Ventricle	GTEx
rs13101722	RP11-33B1.1	cis	Nerve Tibial	GTEx
rs13101722	RP11-33B1.1	cis	Whole Blood	GTEx
rs13101722	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs13101722	RP11-33B1.1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120552400-120558600	Weak transcription	Fetal Stomach	stomach
2	chr4:120554000-120559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:120554000-120559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:120554000-120559400	Weak transcription	NHLF	lung
5	chr4:120554200-120557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:120554200-120559400	Weak transcription	Osteobl	bone

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