Variant report

Variant	rs2749592
Chromosome Location	chr10:38258842-38258843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38253941..38256453-chr10:38258306..38260474,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11011388	0.89[AMR][1000 genomes]
rs1208653	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1208681	0.82[JPT][hapmap]
rs1208684	0.82[JPT][hapmap]
rs13503	0.82[JPT][hapmap]
rs200910	0.82[JPT][hapmap]
rs200936	0.82[JPT][hapmap]
rs200937	0.82[JPT][hapmap]
rs200940	0.83[AMR][1000 genomes]
rs2472150	0.82[JPT][hapmap]
rs496627	0.82[JPT][hapmap]
rs619739	0.82[JPT][hapmap]
rs623149	0.82[JPT][hapmap]
rs626519	0.82[JPT][hapmap]
rs629577	0.82[JPT][hapmap]
rs645064	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Age-related hearing impairment (interaction)	24939585	GWAS catalog

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38239600-38264400	Weak transcription	Fetal Heart	heart
2	chr10:38239600-38264600	Weak transcription	Stomach Mucosa	stomach
3	chr10:38240800-38264000	Weak transcription	NHLF	lung
4	chr10:38241800-38264400	Weak transcription	NHEK	skin
5	chr10:38242600-38264400	Weak transcription	HUVEC	blood vessel
6	chr10:38246400-38264000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr10:38246400-38264400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:38247000-38263000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:38251800-38259200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr10:38252200-38260000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:38252200-38260600	ZNF genes & repeats	Fetal Brain Female	brain
12	chr10:38252800-38259000	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr10:38253200-38260000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:38253400-38260000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:38253800-38263600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:38254000-38263800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr10:38254200-38261800	Weak transcription	Esophagus	oesophagus
18	chr10:38254200-38264000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:38254200-38264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:38254200-38264400	Weak transcription	NH-A	brain
21	chr10:38254200-38264600	Weak transcription	Gastric	stomach
22	chr10:38254200-38264600	Weak transcription	Pancreas	Pancrea
23	chr10:38254400-38263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:38254400-38263600	Weak transcription	Brain Angular Gyrus	brain
25	chr10:38254400-38264400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:38254400-38264400	Weak transcription	Aorta	Aorta
27	chr10:38254600-38259600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:38254600-38263600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:38254600-38263800	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:38254600-38263800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:38254600-38264200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:38254800-38264600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:38255200-38259000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr10:38255400-38259800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:38255400-38260000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:38255600-38259800	Strong transcription	Brain Hippocampus Middle	brain
37	chr10:38255600-38264600	Weak transcription	Spleen	Spleen
38	chr10:38255800-38260400	Strong transcription	Adipose Nuclei	Adipose
39	chr10:38255800-38260600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:38255800-38260800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:38256000-38260000	Strong transcription	Brain Anterior Caudate	brain
42	chr10:38256000-38260600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:38256000-38260600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr10:38256000-38263800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:38256200-38259800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:38256400-38259200	Strong transcription	Liver	Liver
47	chr10:38256400-38259800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:38256400-38259800	Strong transcription	Brain Substantia Nigra	brain
49	chr10:38256400-38264200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:38256600-38260000	Strong transcription	Primary T cells from cord blood	blood

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