Variant report

Variant	rs11610361
Chromosome Location	chr12:117497589-117497590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10744888	0.89[EUR][1000 genomes]
rs11613556	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615600	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062526	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2062527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062529	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291910	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55986180	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56228868	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956233	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117484400-117497800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
6	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
7	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:117490800-117498200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:117491000-117498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:117491200-117498000	Weak transcription	K562	blood
13	chr12:117491400-117498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:117491400-117498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:117491600-117498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:117491600-117498200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
18	chr12:117493000-117498400	Weak transcription	Placenta	Placenta
19	chr12:117493200-117497800	Weak transcription	Primary B cells from cord blood	blood
20	chr12:117494200-117498800	Weak transcription	Primary T cells from cord blood	blood
21	chr12:117494600-117498800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:117495000-117498400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:117495400-117502600	Weak transcription	A549	lung
26	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
28	chr12:117496200-117498800	Weak transcription	Dnd41	blood
29	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:117496400-117498600	Enhancers	Stomach Mucosa	stomach
31	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:117496600-117498000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:117496600-117498000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:117496600-117498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
38	chr12:117496800-117498000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:117496800-117498000	Enhancers	Brain Anterior Caudate	brain
40	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
41	chr12:117497000-117498400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:117497000-117498400	Weak transcription	Pancreas	Pancrea
43	chr12:117497200-117498200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:117497200-117498200	Weak transcription	Right Atrium	heart
45	chr12:117497200-117498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:117497200-117499000	Weak transcription	Spleen	Spleen
47	chr12:117497200-117500400	Weak transcription	Gastric	stomach
48	chr12:117497400-117497800	Weak transcription	Right Ventricle	heart
49	chr12:117497400-117498600	Enhancers	HepG2	liver

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