Variant report

Variant	rs7125209
Chromosome Location	chr11:57774576-57774577
allele	C/T
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:34)

rs_ID	r²[population]
rs10750876	0.81[AMR][1000 genomes]
rs10750877	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792127	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10792130	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10896689	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229194	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11229195	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11229197	0.89[ASN][1000 genomes]
rs11512733	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807961	0.89[ASN][1000 genomes]
rs2441960	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2441961	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2513705	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2513713	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2513726	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2513727	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2514181	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2514186	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2514187	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2866830	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34243081	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851119	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4267090	0.88[ASN][1000 genomes]
rs4272801	0.82[AMR][1000 genomes]
rs4341559	0.89[ASN][1000 genomes]
rs4418827	0.90[ASN][1000 genomes]
rs4423203	0.90[ASN][1000 genomes]
rs4938883	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939174	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7926806	0.88[ASN][1000 genomes]
rs7941993	0.88[ASN][1000 genomes]
rs921132	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs921134	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs921135	0.86[AMR][1000 genomes];0.84[EUR][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	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	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv975361	chr11:57761225-57786621	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	nsv972032	chr11:57771876-57774577	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3476441	chr11:57774108-57775087	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3443762	chr11:57774120-57775082	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3476452	chr11:57774122-57775083	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57772600-57779000	Weak transcription	HepG2	liver
2	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
3	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
6	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
8	chr11:57774200-57774800	Enhancers	Right Atrium	heart
9	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
10	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas

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