Variant report

Variant	rs301909
Chromosome Location	chr5:37102627-37102628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10061157	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10073054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10079030	0.80[EUR][1000 genomes]
rs10941321	0.82[EUR][1000 genomes]
rs13169211	0.86[ASN][1000 genomes]
rs13171526	0.83[ASN][1000 genomes]
rs2098713	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs216385	0.80[EUR][1000 genomes]
rs301863	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301867	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs301869	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs301872	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs301873	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs301874	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs301878	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs301905	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs301906	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs301908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451313	0.88[EUR][1000 genomes]
rs6860727	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6886108	0.81[EUR][1000 genomes]
rs6887958	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7711452	0.84[EUR][1000 genomes]
rs7715883	0.83[EUR][1000 genomes]
rs7729404	0.84[EUR][1000 genomes]
rs7735138	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active 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	45 gene(s)	inside rSNPs	diseases
7	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv964844	chr5:37080836-37107123	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
2	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
3	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:37065000-37107600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:37065200-37103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:37067000-37111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:37072600-37103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:37073400-37103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:37078800-37105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:37080000-37103800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
12	chr5:37082000-37109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
14	chr5:37085400-37103200	Weak transcription	Thymus	Thymus
15	chr5:37085600-37103400	Weak transcription	Left Ventricle	heart
16	chr5:37087000-37104400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:37087000-37105200	Weak transcription	Lung	lung
18	chr5:37087000-37107000	Weak transcription	Pancreas	Pancrea
19	chr5:37087200-37106800	Weak transcription	Hela-S3	cervix
20	chr5:37087200-37113600	Weak transcription	NH-A	brain
21	chr5:37087400-37103200	Weak transcription	Dnd41	blood
22	chr5:37087600-37103200	Weak transcription	Fetal Thymus	thymus
23	chr5:37087600-37105000	Weak transcription	Osteobl	bone
24	chr5:37088800-37103400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:37092600-37104600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:37092600-37104800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:37092800-37104400	Weak transcription	Ovary	ovary
28	chr5:37093000-37103200	Weak transcription	HSMMtube	muscle
29	chr5:37094200-37106400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:37096400-37103400	Weak transcription	NHDF-Ad	bronchial
31	chr5:37097800-37107000	Weak transcription	Brain Angular Gyrus	brain
32	chr5:37098400-37104400	Weak transcription	Aorta	Aorta
33	chr5:37098800-37103000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:37099200-37103000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:37099400-37107600	Weak transcription	Gastric	stomach
36	chr5:37099800-37104400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:37099800-37105000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:37100000-37103000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:37100000-37106800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:37100800-37103000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:37100800-37112000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:37101000-37103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:37101000-37103600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:37101000-37107200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:37101200-37103200	Weak transcription	Adipose Nuclei	Adipose
46	chr5:37101200-37103400	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:37101200-37107600	Weak transcription	Right Ventricle	heart
48	chr5:37101200-37115000	Weak transcription	A549	lung
49	chr5:37101400-37103600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:37101400-37105000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links