Variant report

Variant	rs73688082
Chromosome Location	chr7:33252677-33252678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55725343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56271710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57445939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58830707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61196657	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6970824	1.00[AMR][1000 genomes]
rs73687329	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73687362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688094	0.94[AFR][1000 genomes]
rs73688907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33248000-33255400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:33249400-33257200	Weak transcription	Fetal Brain Male	brain
3	chr7:33249800-33254600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:33250600-33260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:33251000-33255000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:33251200-33252800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr7:33251400-33253800	Weak transcription	Pancreas	Pancrea
8	chr7:33251400-33265400	Weak transcription	Gastric	stomach
9	chr7:33251600-33254200	Weak transcription	Right Ventricle	heart
10	chr7:33251800-33254400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:33252000-33253600	Strong transcription	Primary T cells from cord blood	blood
12	chr7:33252000-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:33252000-33255000	Weak transcription	Liver	Liver
14	chr7:33252000-33255200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:33252000-33262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:33252200-33252800	Strong transcription	Left Ventricle	heart
17	chr7:33252200-33252800	ZNF genes & repeats	Lung	lung
18	chr7:33252200-33252800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
19	chr7:33252200-33253000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:33252200-33253000	Strong transcription	Brain Hippocampus Middle	brain
21	chr7:33252200-33253000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr7:33252200-33254000	Strong transcription	Ovary	ovary
23	chr7:33252200-33254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:33252200-33255200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:33252400-33253000	ZNF genes & repeats	Aorta	Aorta
26	chr7:33252400-33253000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr7:33252400-33253200	Strong transcription	Fetal Lung	lung
28	chr7:33252400-33253600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:33252400-33254000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr7:33252400-33254000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr7:33252400-33254200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr7:33252400-33254200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr7:33252400-33255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:33252400-33261600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:33252400-33263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:33252600-33252800	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr7:33252600-33253800	Weak transcription	Brain Angular Gyrus	brain
38	chr7:33252600-33254000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:33252600-33254400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:33252600-33254600	Weak transcription	Primary B cells from cord blood	blood
41	chr7:33252600-33254800	Weak transcription	HepG2	liver
42	chr7:33252600-33255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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