Variant report

Variant	rs938012
Chromosome Location	chr11:57745566-57745567
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10750876	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792119	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10792120	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10792121	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10792122	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792126	0.82[AMR][1000 genomes]
rs10792128	0.82[AMR][1000 genomes]
rs10896663	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10896668	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10896671	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896674	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896675	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896690	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10896692	0.82[AMR][1000 genomes]
rs11229194	0.93[AMR][1000 genomes]
rs11229195	0.90[AMR][1000 genomes]
rs11512733	0.89[AMR][1000 genomes]
rs12281690	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1317828	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1510419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510421	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1848880	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1848882	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1848883	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2089748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136726	0.92[EUR][1000 genomes]
rs2441958	0.84[ASN][1000 genomes]
rs2866828	0.93[EUR][1000 genomes]
rs2866829	0.93[EUR][1000 genomes]
rs34243081	0.89[AMR][1000 genomes]
rs4272801	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4939170	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6591447	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924376	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924454	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs921133	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9794898	0.83[EUR][1000 genomes]
rs9795237	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv517822	chr11:57728993-57751001	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57742600-57751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57742600-57751000	Weak transcription	Brain Germinal Matrix	brain
3	chr11:57742800-57747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:57744000-57746400	Enhancers	HepG2	liver
5	chr11:57744200-57745600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:57744600-57745600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:57744600-57745600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:57744600-57745800	Enhancers	Fetal Muscle Leg	muscle
9	chr11:57744800-57745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:57744800-57746200	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:57745000-57745600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:57745000-57745600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:57745000-57745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:57745000-57745800	Enhancers	HSMM	muscle
15	chr11:57745000-57747400	Enhancers	Pancreas	Pancrea
16	chr11:57745000-57748200	Enhancers	HSMMtube	muscle
17	chr11:57745200-57745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:57745200-57745600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57745200-57745600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:57745200-57745600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:57745200-57745600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:57745400-57747400	Enhancers	Gastric	stomach
23	chr11:57745400-57751200	Weak transcription	Left Ventricle	heart

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