Variant report

Variant	rs10793036
Chromosome Location	chr11:72322179-72322180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
2	chr11:72321761..72324145-chr11:72337508..72339149,2	K562	blood:
3	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:
4	chr11:72310686..72313140-chr11:72320651..72322680,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11235546	0.90[ASN][1000 genomes]
rs11235551	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235559	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs1135029	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.87[ASN][1000 genomes]
rs11605051	0.85[ASN][1000 genomes]
rs12146545	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12276767	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12363065	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs12576058	0.81[CHB][hapmap]
rs12797791	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs1391888	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1467135	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.87[ASN][1000 genomes]
rs163694	0.81[CHB][hapmap]
rs168173	0.86[ASN][1000 genomes]
rs1872126	0.81[CHB][hapmap]
rs189332	0.81[CHB][hapmap]
rs1980089	0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs1980090	0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.87[ASN][1000 genomes]
rs2035467	0.81[CHB][hapmap]
rs2280098	0.87[ASN][1000 genomes]
rs341049	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs341052	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs341053	0.81[CHB][hapmap]
rs341061	0.80[CHB][hapmap]
rs341086	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs341088	0.96[ASN][1000 genomes]
rs3781913	0.81[CHB][hapmap]
rs3781916	0.80[CHB][hapmap]
rs3781938	0.87[ASN][1000 genomes]
rs3781939	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs3825009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[YRI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs401801	0.81[CHB][hapmap]
rs429075	0.87[ASN][1000 genomes]
rs456405	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs458275	0.87[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap]
rs458575	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs4943939	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs56350365	0.87[ASN][1000 genomes]
rs61895571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895572	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs90409	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907850	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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 miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10793036	MRPL21	cis	cerebellum	SCAN
rs10793036	ORAOV1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:72317600-72323800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:72317600-72326400	Weak transcription	Gastric	stomach
4	chr11:72318400-72322600	Weak transcription	Esophagus	oesophagus
5	chr11:72318600-72324600	Weak transcription	Right Atrium	heart
6	chr11:72318800-72322800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:72318800-72324400	Weak transcription	Fetal Brain Female	brain
8	chr11:72319000-72324400	Weak transcription	Brain Germinal Matrix	brain
9	chr11:72319000-72325400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:72319200-72325200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:72319400-72323800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:72319400-72324200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:72319800-72325200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:72320000-72324600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:72320000-72325000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:72320200-72325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:72320400-72322400	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr11:72320600-72324800	Weak transcription	Left Ventricle	heart
19	chr11:72320800-72325000	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:72321200-72322800	Genic enhancers	Spleen	Spleen
21	chr11:72321600-72324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:72321800-72322600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:72322000-72322800	Genic enhancers	Right Ventricle	heart
24	chr11:72322000-72323000	Weak transcription	Fetal Brain Male	brain

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