Variant report

Variant	rs7978810
Chromosome Location	chr12:117498431-117498432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10744887	0.85[EUR][1000 genomes]
rs10774899	0.84[EUR][1000 genomes]
rs10850745	0.82[EUR][1000 genomes]
rs10850746	0.84[EUR][1000 genomes]
rs10850747	0.86[CEU][hapmap];0.97[EUR][1000 genomes]
rs10850751	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs10850752	0.85[EUR][1000 genomes]
rs11068299	0.83[EUR][1000 genomes]
rs11068300	0.82[EUR][1000 genomes]
rs11068301	0.84[EUR][1000 genomes]
rs11068306	0.86[EUR][1000 genomes]
rs11611741	0.96[EUR][1000 genomes]
rs11832441	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834817	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs11837022	0.96[EUR][1000 genomes]
rs12368876	0.83[EUR][1000 genomes]
rs1472523	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs2062528	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs2173654	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs2291911	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2393124	0.85[EUR][1000 genomes]
rs3782191	0.83[EUR][1000 genomes]
rs3782192	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4766825	0.84[EUR][1000 genomes]
rs55969361	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58470318	0.87[EUR][1000 genomes]
rs59756806	0.81[EUR][1000 genomes]
rs6490104	0.84[EUR][1000 genomes]
rs6490105	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs6490106	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs6490107	0.96[EUR][1000 genomes]
rs7294692	0.84[EUR][1000 genomes]
rs7297303	0.84[EUR][1000 genomes]
rs7297917	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7953553	0.91[EUR][1000 genomes]
rs7955009	0.93[ASN][1000 genomes]
rs7956481	0.83[EUR][1000 genomes]
rs7960638	0.82[EUR][1000 genomes]
rs7960731	0.84[EUR][1000 genomes]
rs7964668	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs7964686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968761	0.82[EUR][1000 genomes]
rs7968891	0.85[EUR][1000 genomes]
rs7971795	0.84[EUR][1000 genomes]
rs7972416	0.96[EUR][1000 genomes]
rs9634171	0.82[CEU][hapmap];0.84[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
2	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:117491400-117498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
7	chr12:117494200-117498800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:117494600-117498800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:117495400-117502600	Weak transcription	A549	lung
12	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
14	chr12:117496200-117498800	Weak transcription	Dnd41	blood
15	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:117496400-117498600	Enhancers	Stomach Mucosa	stomach
17	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
21	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
22	chr12:117497200-117499000	Weak transcription	Spleen	Spleen
23	chr12:117497200-117500400	Weak transcription	Gastric	stomach
24	chr12:117497400-117498600	Enhancers	HepG2	liver
25	chr12:117497800-117498800	Enhancers	Fetal Brain Female	brain
26	chr12:117497800-117499000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:117497800-117499200	Enhancers	Fetal Brain Male	brain
28	chr12:117497800-117499600	Enhancers	Right Ventricle	heart
29	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
30	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:117498000-117498600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:117498000-117498800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:117498000-117498800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr12:117498000-117499000	Enhancers	Esophagus	oesophagus
35	chr12:117498000-117499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:117498000-117499600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:117498000-117499600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:117498000-117499600	Enhancers	K562	blood
39	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
40	chr12:117498200-117498600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:117498200-117498600	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr12:117498200-117498800	Enhancers	Adipose Nuclei	Adipose
43	chr12:117498200-117498800	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr12:117498200-117499000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:117498200-117499000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:117498200-117499200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:117498200-117499200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:117498200-117499200	Enhancers	Right Atrium	heart
49	chr12:117498200-117499400	Enhancers	Thymus	Thymus
50	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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