Variant report

Variant	rs11750109
Chromosome Location	chr5:61532048-61532049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1108158	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11739501	0.81[ASN][1000 genomes]
rs11742167	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11746415	0.81[ASN][1000 genomes]
rs11748847	0.81[ASN][1000 genomes]
rs13157939	0.81[ASN][1000 genomes]
rs13161789	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162519	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170425	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13176923	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13178877	0.81[ASN][1000 genomes]
rs13181377	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13186643	0.81[ASN][1000 genomes]
rs13188046	0.85[ASN][1000 genomes]
rs13189446	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16890613	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16898781	0.81[ASN][1000 genomes]
rs16898838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059162	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2063255	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35311093	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35672643	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35692500	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35744020	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35746052	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35794032	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35842742	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36105063	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3846461	0.81[ASN][1000 genomes]
rs3846465	0.82[ASN][1000 genomes]
rs4635894	0.82[ASN][1000 genomes]
rs71617421	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71617425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71617426	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71617427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71617428	0.85[EUR][1000 genomes]
rs71631925	0.81[ASN][1000 genomes]
rs71631932	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs971965	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv11317	chr5:61501951-61555756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv821303	chr5:61501951-61555756	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1817691	chr5:61508758-61537518	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1830053	chr5:61510046-61550324	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv10702	chr5:61510435-61552062	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv964860	chr5:61510512-61548253	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1826874	chr5:61512183-61552823	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1830196	chr5:61512352-61548378	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61529400-61534200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:61529600-61533000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:61529800-61532200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:61530000-61533000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:61530800-61533400	Enhancers	HSMM	muscle
6	chr5:61530800-61533800	Enhancers	Fetal Muscle Leg	muscle
7	chr5:61531000-61533400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:61531200-61532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:61531600-61536800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:61531600-61537000	Weak transcription	GM12878-XiMat	blood
11	chr5:61532000-61533000	Weak transcription	HSMMtube	muscle

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