Variant report

Variant	rs62470893
Chromosome Location	chr7:65374027-65374028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65366932..65368571-chr7:65372098..65374403,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10279841	0.83[EUR][1000 genomes]
rs10807697	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12670952	0.87[EUR][1000 genomes]
rs13237956	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1631091	0.81[EUR][1000 genomes]
rs1701757	0.81[EUR][1000 genomes]
rs1701760	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1723268	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1880556	0.87[EUR][1000 genomes]
rs1917563	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2008188	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2658585	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2658587	0.80[EUR][1000 genomes]
rs2692056	0.81[EUR][1000 genomes]
rs2946579	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2949690	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3201569	0.84[EUR][1000 genomes]
rs34973832	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35135885	0.81[EUR][1000 genomes]
rs35850374	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4467826	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718288	0.81[EUR][1000 genomes]
rs55773927	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55796207	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56028712	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66552782	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6945322	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6954920	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6955582	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6960048	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs709604	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs736270	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7383796	0.85[EUR][1000 genomes]
rs7784623	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7791814	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809991	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs781143	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs781144	0.87[EUR][1000 genomes]
rs781145	0.87[EUR][1000 genomes]
rs781151	0.81[EUR][1000 genomes]
rs781152	0.81[EUR][1000 genomes]
rs9530	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs62470893	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs62470893	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs62470893	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs62470893	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs62470893	RP4-756H11.3	cis	Artery Aorta	GTEx
rs62470893	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs62470893	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs62470893	RP4-756H11.3	cis	Thyroid	GTEx
rs62470893	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs62470893	RP4-756H11.3	cis	Artery Tibial	GTEx
rs62470893	RP4-756H11.3	cis	lung	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65339600-65394400	Weak transcription	HMEC	breast
3	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:65351800-65389200	Weak transcription	Lung	lung
5	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:65357400-65381000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:65357600-65375600	Weak transcription	HSMM	muscle
8	chr7:65358000-65375400	Weak transcription	Fetal Heart	heart
9	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
10	chr7:65358400-65374200	Weak transcription	Ovary	ovary
11	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
13	chr7:65364800-65377800	Weak transcription	Osteobl	bone
14	chr7:65364800-65387400	Weak transcription	K562	blood
15	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:65367400-65377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:65367400-65378200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:65367600-65376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:65367600-65388200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:65369600-65383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
27	chr7:65369600-65405800	Weak transcription	NHEK	skin
28	chr7:65369800-65380400	Weak transcription	GM12878-XiMat	blood
29	chr7:65370000-65382200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:65370000-65387000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:65370200-65375000	Weak transcription	Fetal Lung	lung
32	chr7:65370200-65382200	Weak transcription	Dnd41	blood
33	chr7:65371600-65392800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:65371800-65375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:65371800-65392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:65372000-65392000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:65373000-65375400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:65373000-65377800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:65373000-65389600	Weak transcription	HepG2	liver
40	chr7:65373000-65389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:65373000-65390200	Weak transcription	Thymus	Thymus
42	chr7:65373000-65403200	Weak transcription	A549	lung
43	chr7:65373200-65375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:65373200-65375400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:65373200-65375400	Enhancers	Liver	Liver
46	chr7:65373200-65377400	Weak transcription	Pancreas	Pancrea
47	chr7:65373200-65392200	Weak transcription	Fetal Intestine Small	intestine
48	chr7:65373800-65376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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