Variant report

Variant	rs2269752
Chromosome Location	chr7:18699285-18699286
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10229062	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10259495	0.91[JPT][hapmap];0.85[AMR][1000 genomes]
rs10276216	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10486291	0.82[CEU][hapmap];0.84[MEX][hapmap]
rs1633787	0.82[CEU][hapmap]
rs17139571	0.82[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17139630	0.82[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs17139658	0.94[JPT][hapmap]
rs17139675	0.95[JPT][hapmap]
rs17150245	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2157847	0.82[CEU][hapmap]
rs2285437	0.85[MEX][hapmap]
rs2285439	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2285440	0.95[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801985	0.82[CEU][hapmap]
rs3814991	0.84[MEX][hapmap]
rs4484585	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6973548	1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73067100	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73069011	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
3	chr7:18645800-18706000	Weak transcription	HMEC	breast
4	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
6	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
8	chr7:18678400-18702000	Weak transcription	Spleen	Spleen
9	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:18686800-18699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:18688400-18706000	Weak transcription	NHEK	skin
13	chr7:18688400-18715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:18688600-18706000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:18688800-18702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:18688800-18703400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:18688800-18705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:18688800-18706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:18689000-18707400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:18689200-18704800	Weak transcription	Fetal Brain Female	brain
22	chr7:18689400-18701200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:18689400-18705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:18689400-18708200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:18689400-18713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:18689600-18701400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:18689600-18705800	Weak transcription	Left Ventricle	heart
28	chr7:18689600-18706800	Weak transcription	NH-A	brain
29	chr7:18690000-18708200	Weak transcription	Fetal Heart	heart
30	chr7:18690600-18702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:18693200-18704200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:18694600-18705800	Weak transcription	Esophagus	oesophagus
33	chr7:18695400-18703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:18695800-18706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:18696200-18701000	Strong transcription	Primary B cells from cord blood	blood
36	chr7:18696200-18715000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:18696600-18702400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:18696800-18710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:18697400-18699400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:18697400-18700400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:18697600-18699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:18698000-18743400	Weak transcription	HSMMtube	muscle
43	chr7:18699000-18699400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:18699000-18699600	Strong transcription	Brain Hippocampus Middle	brain
45	chr7:18699000-18699600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:18699200-18699400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:18699200-18699400	Enhancers	Brain Angular Gyrus	brain
48	chr7:18699200-18699600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:18699200-18699600	Enhancers	Aorta	Aorta
50	chr7:18699200-18699600	Enhancers	Fetal Stomach	stomach

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