Variant report

Variant	rs11940802
Chromosome Location	chr4:69049643-69049644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10004522	1.00[CEU][hapmap];0.94[TSI][hapmap]
rs10018943	1.00[CEU][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs1079449	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs11131739	0.87[EUR][1000 genomes]
rs11727567	0.82[EUR][1000 genomes]
rs11731769	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11733984	0.82[EUR][1000 genomes]
rs11947862	0.81[EUR][1000 genomes]
rs11947869	0.82[EUR][1000 genomes]
rs12331141	1.00[CHD][hapmap]
rs12501405	0.83[EUR][1000 genomes]
rs12501540	0.84[EUR][1000 genomes]
rs12502214	0.87[EUR][1000 genomes]
rs12502757	0.87[EUR][1000 genomes]
rs12502946	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12503814	0.86[EUR][1000 genomes]
rs12503983	1.00[CEU][hapmap]
rs12504120	0.83[EUR][1000 genomes]
rs12504557	0.87[EUR][1000 genomes]
rs12506837	0.88[EUR][1000 genomes]
rs12507309	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12507767	0.84[EUR][1000 genomes]
rs12645384	0.80[EUR][1000 genomes]
rs12648112	0.82[EUR][1000 genomes]
rs13115003	1.00[CEU][hapmap]
rs13132100	0.82[EUR][1000 genomes]
rs13132990	0.88[EUR][1000 genomes]
rs13135438	0.87[EUR][1000 genomes]
rs13138038	1.00[CEU][hapmap]
rs13147736	0.86[EUR][1000 genomes]
rs13148584	0.87[EUR][1000 genomes]
rs1320264	0.87[EUR][1000 genomes]
rs1370828	1.00[CEU][hapmap];0.94[TSI][hapmap]
rs1370830	1.00[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs1370832	1.00[CEU][hapmap]
rs1438389	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1438439	0.82[EUR][1000 genomes]
rs1438440	0.82[EUR][1000 genomes]
rs1438441	0.82[EUR][1000 genomes]
rs1438442	0.82[EUR][1000 genomes]
rs1438443	0.82[EUR][1000 genomes]
rs1438444	1.00[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1438445	1.00[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1438447	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1530062	0.82[EUR][1000 genomes]
rs1530063	0.95[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs17089005	0.82[EUR][1000 genomes]
rs17089042	1.00[CEU][hapmap];0.94[TSI][hapmap]
rs1837215	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1866327	0.81[EUR][1000 genomes]
rs1866328	0.82[EUR][1000 genomes]
rs1866329	0.82[EUR][1000 genomes]
rs1898644	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs1946827	1.00[CEU][hapmap]
rs2118625	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2164935	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2319793	0.88[EUR][1000 genomes]
rs34237875	0.87[EUR][1000 genomes]
rs3819257	1.00[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs4317250	0.87[EUR][1000 genomes]
rs4374659	1.00[CEU][hapmap];0.97[TSI][hapmap]
rs4407557	0.82[EUR][1000 genomes]
rs4538543	0.82[EUR][1000 genomes]
rs4613616	0.82[EUR][1000 genomes]
rs4860273	0.91[CEU][hapmap]
rs4860274	0.95[CEU][hapmap]
rs4860275	0.95[CEU][hapmap];0.91[TSI][hapmap]
rs4860276	0.82[EUR][1000 genomes]
rs4860277	0.82[EUR][1000 genomes]
rs4860278	0.84[EUR][1000 genomes]
rs4860282	0.87[EUR][1000 genomes]
rs4860897	0.82[EUR][1000 genomes]
rs4860908	0.87[EUR][1000 genomes]
rs59649794	0.87[EUR][1000 genomes]
rs6552145	1.00[CEU][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs6552171	1.00[CHD][hapmap]
rs6552175	1.00[CHD][hapmap]
rs66943336	0.89[EUR][1000 genomes]
rs6811052	1.00[CEU][hapmap]
rs6812743	0.80[EUR][1000 genomes]
rs6819568	0.86[EUR][1000 genomes]
rs6827417	0.87[EUR][1000 genomes]
rs6842578	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs71604558	0.83[EUR][1000 genomes]
rs7434397	1.00[CHD][hapmap]
rs7435855	0.82[EUR][1000 genomes]
rs7669495	0.82[AFR][1000 genomes]
rs7674140	0.83[EUR][1000 genomes]
rs9312193	1.00[CHD][hapmap]
rs939206	0.89[EUR][1000 genomes]
rs966827	1.00[CEU][hapmap];0.94[TSI][hapmap]

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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv4371	chr4:69046637-69081620	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11940802	TMPRSS11A	cis	parietal	SCAN
rs11940802	GCOM2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69048600-69054400	Weak transcription	Esophagus	oesophagus
2	chr4:69048800-69050000	Enhancers	Hela-S3	cervix

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