Variant report

Variant	rs38502
Chromosome Location	chr7:28014675-28014676
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10951189	0.82[ASN][1000 genomes]
rs12216542	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12537454	0.84[ASN][1000 genomes]
rs12537684	0.83[ASN][1000 genomes]
rs12671522	0.83[ASN][1000 genomes]
rs192254	0.84[EUR][1000 genomes]
rs2107821	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107822	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs253310	0.83[ASN][1000 genomes]
rs35846584	0.82[ASN][1000 genomes]
rs38500	0.81[ASN][1000 genomes]
rs38504	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs38507	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38511	0.94[ASN][1000 genomes]
rs38513	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38514	0.83[ASN][1000 genomes]
rs38516	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38517	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4365989	0.82[ASN][1000 genomes]
rs4422694	0.82[ASN][1000 genomes]
rs57551874	0.82[ASN][1000 genomes]
rs6965213	0.83[ASN][1000 genomes]
rs72598569	0.83[ASN][1000 genomes]
rs72598573	0.80[ASN][1000 genomes]
rs73089188	0.83[ASN][1000 genomes]
rs73089199	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 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	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
2	chr7:27998400-28015000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:28000600-28019400	Weak transcription	Pancreas	Pancrea
4	chr7:28000600-28021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:28002600-28016800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:28006200-28015600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:28006200-28019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:28006200-28024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:28006400-28031800	Weak transcription	NHDF-Ad	bronchial
11	chr7:28006600-28016000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:28007000-28019200	Weak transcription	Esophagus	oesophagus
13	chr7:28009800-28021600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:28012200-28014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:28012400-28014800	Weak transcription	Thymus	Thymus
16	chr7:28012400-28022200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:28012400-28028000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:28013400-28020000	Strong transcription	Primary B cells from cord blood	blood
19	chr7:28013400-28034200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:28014000-28015000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:28014000-28017200	Weak transcription	Left Ventricle	heart
22	chr7:28014200-28016000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:28014400-28016000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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