Variant report

Variant	rs341086
Chromosome Location	chr11:72317803-72317804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
2	chr11:72300647..72303115-chr11:72315486..72318299,2	MCF-7	breast:
3	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:
4	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10793036	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]
rs11235546	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235551	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs11235559	0.82[CHD][hapmap]
rs1135029	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.88[ASN][1000 genomes]
rs11605051	0.86[ASN][1000 genomes]
rs12146545	0.87[JPT][hapmap]
rs12276767	0.86[ASN][1000 genomes]
rs12363065	0.82[CHD][hapmap]
rs12797791	0.83[JPT][hapmap]
rs1391888	0.87[JPT][hapmap]
rs1467135	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.88[ASN][1000 genomes]
rs168173	0.87[ASN][1000 genomes]
rs1980089	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.87[ASN][1000 genomes]
rs1980090	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs2280098	0.88[ASN][1000 genomes]
rs341049	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs341052	0.86[JPT][hapmap]
rs341088	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3781938	0.88[ASN][1000 genomes]
rs3781939	1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.88[ASN][1000 genomes]
rs3825009	0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs429075	0.88[ASN][1000 genomes]
rs456405	0.92[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs458275	0.81[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap]
rs458575	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4943939	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56350365	0.88[ASN][1000 genomes]
rs61895571	0.99[ASN][1000 genomes]
rs61895572	0.86[ASN][1000 genomes]
rs90409	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs907850	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs341086	MRPL21	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:72315800-72319000	Enhancers	Ovary	ovary
3	chr11:72316000-72319400	Genic enhancers	Right Ventricle	heart
4	chr11:72316000-72319600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:72316200-72318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:72316600-72318400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:72316600-72318400	Enhancers	HSMMtube	muscle
8	chr11:72316600-72319400	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:72316600-72319800	Enhancers	Brain Anterior Caudate	brain
10	chr11:72316600-72320600	Enhancers	Left Ventricle	heart
11	chr11:72316800-72318600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr11:72316800-72318600	Enhancers	Right Atrium	heart
13	chr11:72316800-72319000	Genic enhancers	Brain Germinal Matrix	brain
14	chr11:72317000-72318000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:72317000-72318800	Enhancers	Fetal Brain Female	brain
16	chr11:72317000-72319000	Enhancers	Fetal Brain Male	brain
17	chr11:72317000-72319400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:72317200-72318200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:72317200-72318200	Weak transcription	Liver	Liver
20	chr11:72317200-72318200	Enhancers	Fetal Heart	heart
21	chr11:72317200-72319200	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:72317200-72321400	Weak transcription	Colonic Mucosa	Colon
23	chr11:72317400-72318000	Enhancers	Adipose Nuclei	Adipose
24	chr11:72317400-72318400	Enhancers	HSMM	muscle
25	chr11:72317400-72318400	Bivalent Enhancer	NHLF	lung
26	chr11:72317400-72319000	Enhancers	Brain Angular Gyrus	brain
27	chr11:72317400-72319400	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:72317400-72319600	Genic enhancers	Colon Smooth Muscle	Colon
29	chr11:72317600-72318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:72317600-72318000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr11:72317600-72318000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:72317600-72318600	Enhancers	Spleen	Spleen
33	chr11:72317600-72319600	Bivalent Enhancer	Placenta	Placenta
34	chr11:72317600-72323800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:72317600-72326400	Weak transcription	Gastric	stomach
36	chr11:72317800-72318200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72317800-72318200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr11:72317800-72318400	Enhancers	Esophagus	oesophagus

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