Variant report

Variant	rs2520456
Chromosome Location	chr7:18614519-18614520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1557696	0.82[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2695028	0.92[CEU][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs2704289	0.82[ASW][hapmap]

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	nsv887812	chr7:18548719-18622368	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv516893	chr7:18601365-18614519	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18581600-18620200	Weak transcription	HSMMtube	muscle
2	chr7:18600600-18617600	Weak transcription	Psoas Muscle	Psoas
3	chr7:18605400-18620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:18606800-18616000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:18606800-18616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:18606800-18620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:18606800-18631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:18607000-18615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:18607000-18630000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:18610600-18615200	Weak transcription	Fetal Brain Male	brain
11	chr7:18610600-18616400	Weak transcription	Fetal Heart	heart
12	chr7:18610600-18620400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:18610600-18629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:18610800-18615600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:18610800-18629600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:18611000-18620200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:18611200-18620400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:18611600-18633000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:18613000-18620400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:18613200-18614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:18613200-18614600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:18613200-18614600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:18613200-18616600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:18613200-18633200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:18613400-18614600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:18613400-18614600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:18613400-18616600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:18613400-18616800	Weak transcription	Aorta	Aorta
29	chr7:18613400-18616800	Weak transcription	Right Atrium	heart
30	chr7:18613400-18619400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:18613400-18620000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:18613600-18614600	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr7:18613600-18614600	Strong transcription	Fetal Stomach	stomach
34	chr7:18613600-18616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:18613600-18624800	Weak transcription	Left Ventricle	heart
36	chr7:18613600-18633200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:18613800-18614800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:18613800-18615800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:18614000-18615200	Weak transcription	Primary B cells from cord blood	blood
40	chr7:18614200-18614600	Genic enhancers	Spleen	Spleen
41	chr7:18614200-18616600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:18614200-18619200	Weak transcription	Fetal Brain Female	brain
43	chr7:18614200-18633200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:18614400-18614600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:18614400-18614600	Weak transcription	Gastric	stomach
46	chr7:18614400-18614600	Enhancers	Right Ventricle	heart
47	chr7:18614400-18620200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:18614400-18620600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:18614400-18624800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:18614400-18630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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