Variant report

Variant	rs7603337
Chromosome Location	chr2:39613150-39613151
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1012689	0.81[ASN][1000 genomes]
rs10153665	0.90[EUR][1000 genomes]
rs10170424	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10170617	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10172736	0.90[EUR][1000 genomes]
rs10173556	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10175038	0.90[EUR][1000 genomes]
rs10175094	0.85[ASN][1000 genomes]
rs10190069	0.87[EUR][1000 genomes]
rs10195629	0.87[EUR][1000 genomes]
rs1035232	0.90[EUR][1000 genomes]
rs10865149	0.92[EUR][1000 genomes]
rs10865150	0.98[EUR][1000 genomes]
rs10865152	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11124668	0.90[EUR][1000 genomes]
rs11124673	0.90[EUR][1000 genomes]
rs11124676	0.85[EUR][1000 genomes]
rs11124679	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1125839	0.90[EUR][1000 genomes]
rs11688728	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1211996	0.89[EUR][1000 genomes]
rs12328727	0.86[ASN][1000 genomes]
rs12622941	0.87[EUR][1000 genomes]
rs12712636	0.84[EUR][1000 genomes]
rs12712640	0.85[ASN][1000 genomes]
rs1468902	0.87[EUR][1000 genomes]
rs1558854	0.83[ASN][1000 genomes]
rs17023837	0.89[EUR][1000 genomes]
rs1861735	0.94[EUR][1000 genomes]
rs1922827	0.85[EUR][1000 genomes]
rs2005892	0.92[EUR][1000 genomes]
rs2178760	0.80[EUR][1000 genomes]
rs2178762	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2193422	0.94[EUR][1000 genomes]
rs2373534	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2373535	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2542008	0.94[EUR][1000 genomes]
rs2888594	0.96[EUR][1000 genomes]
rs2888598	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3755177	0.94[EUR][1000 genomes]
rs3755178	0.88[EUR][1000 genomes]
rs3770670	0.94[EUR][1000 genomes]
rs3770675	0.88[EUR][1000 genomes]
rs3770678	0.90[EUR][1000 genomes]
rs3887311	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6544213	0.90[EUR][1000 genomes]
rs6544220	0.85[EUR][1000 genomes]
rs6544221	0.88[ASN][1000 genomes]
rs6544222	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6544224	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6712274	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6712921	0.88[EUR][1000 genomes]
rs6718134	0.89[EUR][1000 genomes]
rs6725938	0.90[EUR][1000 genomes]
rs6732611	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6736700	0.88[EUR][1000 genomes]
rs6741019	0.90[EUR][1000 genomes]
rs6742170	0.90[EUR][1000 genomes]
rs6743041	0.87[EUR][1000 genomes]
rs6753323	0.94[EUR][1000 genomes]
rs6756183	0.94[EUR][1000 genomes]
rs6760382	0.88[EUR][1000 genomes]
rs7561630	0.82[ASN][1000 genomes]
rs7578136	0.94[EUR][1000 genomes]
rs7579414	0.96[EUR][1000 genomes]
rs759589	0.92[EUR][1000 genomes]
rs7598583	0.81[ASN][1000 genomes]
rs7600014	0.94[EUR][1000 genomes]
rs7600046	0.94[EUR][1000 genomes]
rs7601700	0.94[EUR][1000 genomes]
rs7604047	0.84[EUR][1000 genomes]
rs7608153	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7603337	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
5	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
6	chr2:39603400-39613200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
9	chr2:39606400-39614000	Weak transcription	Right Ventricle	heart
10	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:39607200-39614600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
13	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
16	chr2:39608400-39614600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:39609200-39614000	Weak transcription	Pancreas	Pancrea
21	chr2:39609200-39614600	Weak transcription	Liver	Liver
22	chr2:39609200-39615200	Weak transcription	Gastric	stomach
23	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
24	chr2:39609200-39621600	Weak transcription	Lung	lung
25	chr2:39609400-39613200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:39609400-39615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:39609400-39621600	Weak transcription	HSMM	muscle
30	chr2:39609600-39614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:39609600-39614600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:39609600-39621600	Weak transcription	NH-A	brain
37	chr2:39609600-39621600	Weak transcription	Osteobl	bone
38	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:39610000-39613200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:39610200-39614600	Weak transcription	Fetal Lung	lung
42	chr2:39610200-39615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:39610400-39614600	Weak transcription	Fetal Heart	heart
46	chr2:39610400-39615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:39610400-39617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:39610600-39614000	Weak transcription	Right Atrium	heart
49	chr2:39610600-39614600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:39610800-39613200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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