Variant report

Variant	rs3827608
Chromosome Location	chr5:74687589-74687590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10515195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10942736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942737	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12055331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16872521	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872526	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872555	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16872556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16872589	0.82[AFR][1000 genomes]
rs1909720	0.80[AFR][1000 genomes]
rs2303152	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3925086	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4629571	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805408	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56082155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56361267	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56981407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744566	0.87[ASN][1000 genomes]
rs5744567	0.87[ASN][1000 genomes]
rs5744572	0.87[ASN][1000 genomes]
rs5744591	0.86[AFR][1000 genomes]
rs5744594	0.86[AFR][1000 genomes]
rs5744661	0.80[AFR][1000 genomes]
rs57566899	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58780510	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59367133	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs60298841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60854109	0.86[AFR][1000 genomes]
rs61001560	0.95[ASN][1000 genomes]
rs61080643	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61175242	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61678717	0.82[AFR][1000 genomes]
rs73763057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763094	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763097	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73763098	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73763099	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73763101	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763102	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73764903	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73764904	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73764905	0.95[ASN][1000 genomes]
rs73764909	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73764910	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73764914	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73764915	0.87[ASN][1000 genomes]
rs73764920	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73764921	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73764922	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73764925	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9791146	0.85[EUR][1000 genomes];0.95[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	nsv882192	chr5:74641707-74707762	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
3	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
4	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656600-74694800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:74657800-74708000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:74659800-74720600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74660000-74722800	Weak transcription	Fetal Heart	heart
7	chr5:74660200-74707800	Weak transcription	Stomach Mucosa	stomach
8	chr5:74665000-74703000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:74667000-74723200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:74667200-74688200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:74667200-74693600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:74667600-74687600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:74668000-74688400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:74668600-74687600	Strong transcription	Adipose Nuclei	Adipose
15	chr5:74668600-74687600	Strong transcription	Fetal Lung	lung
16	chr5:74668600-74691200	Strong transcription	Liver	Liver
17	chr5:74670800-74709400	Weak transcription	Pancreas	Pancrea
18	chr5:74670800-74720600	Weak transcription	Right Ventricle	heart
19	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:74671000-74722800	Weak transcription	Hela-S3	cervix
21	chr5:74674400-74688000	Weak transcription	NHEK	skin
22	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
23	chr5:74675400-74694800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:74675400-74699600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:74675400-74720800	Weak transcription	Small Intestine	intestine
26	chr5:74676200-74695000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:74676200-74721000	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:74677000-74701000	Weak transcription	A549	lung
29	chr5:74677400-74722800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:74677600-74693600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:74677600-74709200	Weak transcription	Gastric	stomach
32	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:74677800-74694800	Weak transcription	Fetal Kidney	kidney
34	chr5:74677800-74695200	Weak transcription	Brain Anterior Caudate	brain
35	chr5:74677800-74721000	Weak transcription	NH-A	brain
36	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
38	chr5:74678000-74708000	Weak transcription	NHLF	lung
39	chr5:74678000-74720600	Weak transcription	Colonic Mucosa	Colon
40	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
41	chr5:74678200-74691200	Weak transcription	HepG2	liver
42	chr5:74680600-74721000	Weak transcription	HMEC	breast
43	chr5:74680800-74694800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:74680800-74722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:74681000-74688200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:74681000-74723200	Weak transcription	HUVEC	blood vessel
47	chr5:74681400-74694800	Weak transcription	Placenta	Placenta
48	chr5:74681400-74718400	Weak transcription	Brain Germinal Matrix	brain
49	chr5:74681600-74694800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:74681600-74695000	Weak transcription	Brain Substantia Nigra	brain

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