Variant report

Variant	rs2441958
Chromosome Location	chr11:57796758-57796759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:57795672-57797054	IMR90	lung:	n/a	n/a
2	SPI1	chr11:57796581-57797037	HL-60	blood:	n/a	n/a
3	MAZ	chr11:57795957-57796976	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
RNU6-899P	TF binding region
OR6Q1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10750876	0.82[AMR][1000 genomes]
rs10750877	0.81[EUR][1000 genomes]
rs10750878	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10750879	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10792126	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792127	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10792128	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792129	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792130	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10792131	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10792132	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896689	0.81[EUR][1000 genomes]
rs10896690	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896692	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896693	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896696	0.81[ASN][1000 genomes]
rs11229221	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1123307	0.81[ASN][1000 genomes]
rs1510419	0.84[ASN][1000 genomes]
rs1868043	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003375	0.81[ASN][1000 genomes]
rs2167358	0.81[ASN][1000 genomes]
rs2441960	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2441961	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2513705	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2513713	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2513726	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2513727	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2514181	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2514186	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2514187	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2839749	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2866830	0.81[EUR][1000 genomes]
rs4272801	0.81[AMR][1000 genomes]
rs4939174	0.81[EUR][1000 genomes]
rs4939175	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4939176	0.81[ASN][1000 genomes]
rs59448383	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59594813	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591447	0.82[ASN][1000 genomes]
rs7113065	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7117613	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7118536	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126858	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7952724	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs921132	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs921133	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921134	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs921135	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs938012	0.84[ASN][1000 genomes]
rs976429	0.81[ASN][1000 genomes]
rs976430	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57791200-57798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:57792000-57811400	Weak transcription	Right Atrium	heart
3	chr11:57792400-57796800	Weak transcription	Esophagus	oesophagus
4	chr11:57794400-57797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:57794400-57797200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:57794400-57797800	Enhancers	NHLF	lung
7	chr11:57794600-57797000	Enhancers	Placenta	Placenta
8	chr11:57794600-57797000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:57794600-57797000	Enhancers	Osteobl	bone
10	chr11:57794600-57797400	Enhancers	Fetal Lung	lung
11	chr11:57794800-57797800	Enhancers	Adipose Nuclei	Adipose
12	chr11:57795200-57797000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:57795600-57797000	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:57796400-57796800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:57796400-57796800	Enhancers	Fetal Intestine Small	intestine
16	chr11:57796400-57797000	Enhancers	Left Ventricle	heart
17	chr11:57796400-57797000	Enhancers	HSMMtube	muscle
18	chr11:57796400-57797600	Enhancers	Pancreas	Pancrea
19	chr11:57796400-57799200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:57796600-57796800	Enhancers	Colonic Mucosa	Colon
21	chr11:57796600-57796800	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:57796600-57796800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:57796600-57797000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:57796600-57797000	Enhancers	Brain Anterior Caudate	brain
25	chr11:57796600-57797000	Enhancers	Ovary	ovary
26	chr11:57796600-57797600	Enhancers	Lung	lung
27	chr11:57796600-57798200	Enhancers	HepG2	liver

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