Variant report

Variant	rs13244575
Chromosome Location	chr7:83861475-83861476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1015628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215878	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223946	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236509	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256470	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262040	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707631	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707640	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222313	0.94[EUR][1000 genomes]
rs13230582	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231596	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234176	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521462	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34034034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34808266	0.84[EUR][1000 genomes]
rs35006905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35377558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35929449	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58804537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558721	0.84[EUR][1000 genomes]
rs71558722	0.84[EUR][1000 genomes]
rs71558723	0.81[EUR][1000 genomes]
rs73384867	0.86[EUR][1000 genomes];1.00[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83857600-83874000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:83860000-83861800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:83860000-83862200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:83860200-83862400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:83860200-83862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83860400-83862600	Enhancers	Colon Smooth Muscle	Colon
7	chr7:83860600-83861800	Weak transcription	Fetal Lung	lung
8	chr7:83860800-83861800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:83861000-83865000	Weak transcription	NHEK	skin
10	chr7:83861000-83865200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:83861200-83862000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83861200-83865000	Weak transcription	HMEC	breast
13	chr7:83861200-83865200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:83861200-83865200	Weak transcription	NH-A	brain
15	chr7:83861200-83865200	Weak transcription	NHDF-Ad	bronchial
16	chr7:83861200-83867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:83861400-83861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:83861400-83861800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:83861400-83861800	Weak transcription	NHLF	lung
20	chr7:83861400-83861800	Weak transcription	Osteobl	bone

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