Variant report

Variant	rs62483264
Chromosome Location	chr7:128164117-128164118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10954186	0.85[EUR][1000 genomes]
rs11973151	0.87[EUR][1000 genomes]
rs11978885	0.80[ASN][1000 genomes]
rs12669878	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12670251	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12671391	0.85[EUR][1000 genomes]
rs12671449	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12671633	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12673746	0.92[EUR][1000 genomes]
rs34648097	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34682318	0.83[EUR][1000 genomes]
rs4448212	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731485	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55744429	0.85[EUR][1000 genomes]
rs56199722	0.86[AFR][1000 genomes]
rs56329212	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57968683	0.85[EUR][1000 genomes]
rs58210776	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59475830	0.82[AMR][1000 genomes]
rs59955357	0.82[AMR][1000 genomes]
rs60796599	0.81[EUR][1000 genomes]
rs61479217	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481136	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62481142	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62481155	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62481158	0.81[EUR][1000 genomes]
rs62483260	0.80[EUR][1000 genomes]
rs62483265	0.85[EUR][1000 genomes]
rs62483267	0.84[EUR][1000 genomes]
rs62483269	0.83[EUR][1000 genomes]
rs62483273	0.82[EUR][1000 genomes]
rs62483274	0.84[EUR][1000 genomes]
rs62483275	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483276	0.85[EUR][1000 genomes]
rs62483280	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62483285	0.85[EUR][1000 genomes]
rs62483299	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62483349	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483350	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6946411	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6973650	0.82[EUR][1000 genomes]
rs7783334	0.83[EUR][1000 genomes]
rs7799914	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809300	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9689994	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs62483264	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs62483264	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs62483264	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs62483264	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62483264	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128162800-128164400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:128162800-128164400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:128162800-128164400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:128162800-128164400	Enhancers	Fetal Intestine Small	intestine
5	chr7:128162800-128164400	Enhancers	Fetal Muscle Trunk	muscle
6	chr7:128162800-128164400	Enhancers	Pancreas	Pancrea
7	chr7:128162800-128164600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:128162800-128164800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:128162800-128165000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:128163000-128164400	Enhancers	Fetal Heart	heart
11	chr7:128163000-128166400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr7:128163200-128164200	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:128163200-128164200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:128163200-128164200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:128163200-128164400	Enhancers	Colonic Mucosa	Colon
16	chr7:128163200-128164400	Enhancers	Fetal Intestine Large	intestine
17	chr7:128163200-128164400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:128163200-128164400	Enhancers	Hela-S3	cervix
19	chr7:128163200-128164400	Enhancers	K562	blood
20	chr7:128163200-128165000	Enhancers	Spleen	Spleen
21	chr7:128163400-128164200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:128163400-128164200	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:128163400-128164200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:128163400-128164400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:128163400-128164400	Enhancers	Brain Hippocampus Middle	brain
26	chr7:128163400-128164400	Enhancers	Fetal Lung	lung
27	chr7:128163400-128164400	Enhancers	NHLF	lung
28	chr7:128163400-128166200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:128163400-128166400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:128163600-128164800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:128163600-128169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
34	chr7:128163600-128170400	Weak transcription	Lung	lung
35	chr7:128163800-128164400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:128163800-128165400	Weak transcription	Gastric	stomach
37	chr7:128163800-128165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:128163800-128165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:128163800-128165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:128163800-128165600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:128163800-128165600	Enhancers	HepG2	liver
42	chr7:128163800-128165600	Weak transcription	HMEC	breast
43	chr7:128163800-128166200	Weak transcription	A549	lung
44	chr7:128163800-128169200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:128163800-128169600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:128163800-128169600	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links