Variant report

Variant	rs3782192
Chromosome Location	chr12:117496734-117496735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117495577..117497098-chr12:117535967..117538055,2	K562	blood:
2	chr12:117491735..117493478-chr12:117493930..117496851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10744887	0.89[EUR][1000 genomes]
rs10774899	0.87[EUR][1000 genomes]
rs10850745	0.84[EUR][1000 genomes]
rs10850746	0.87[EUR][1000 genomes]
rs10850747	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs10850751	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10850752	0.88[EUR][1000 genomes]
rs11068299	0.85[EUR][1000 genomes]
rs11068300	0.84[EUR][1000 genomes]
rs11068301	0.86[EUR][1000 genomes]
rs11068306	0.88[EUR][1000 genomes]
rs11611741	0.92[EUR][1000 genomes]
rs11832441	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11834817	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs11837022	0.92[EUR][1000 genomes]
rs12368876	0.85[EUR][1000 genomes]
rs1472523	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2062528	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs2173654	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2291911	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2393124	0.84[EUR][1000 genomes]
rs3782191	0.85[EUR][1000 genomes]
rs4766825	0.86[EUR][1000 genomes]
rs55969361	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58470318	0.90[EUR][1000 genomes]
rs59756806	0.84[EUR][1000 genomes]
rs6490104	0.87[EUR][1000 genomes]
rs6490105	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs6490106	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs6490107	0.92[EUR][1000 genomes]
rs7294692	0.86[EUR][1000 genomes]
rs7297303	0.86[EUR][1000 genomes]
rs7297917	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7953553	0.94[EUR][1000 genomes]
rs7956481	0.86[EUR][1000 genomes]
rs7960638	0.84[EUR][1000 genomes]
rs7960731	0.87[EUR][1000 genomes]
rs7964668	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7964686	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7968761	0.85[EUR][1000 genomes]
rs7968891	0.87[EUR][1000 genomes]
rs7971795	0.87[EUR][1000 genomes]
rs7972416	0.92[EUR][1000 genomes]
rs7978810	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9634171	0.84[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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:47 , 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	chr12:117487400-117497000	Weak transcription	Ovary	ovary
10	chr12:117488600-117496800	Weak transcription	Right Atrium	heart
11	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:117490800-117498200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:117491000-117498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117491200-117498000	Weak transcription	K562	blood
15	chr12:117491400-117498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:117491400-117498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:117491600-117498000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:117491600-117498200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
20	chr12:117491800-117496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:117491800-117496800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:117492200-117496800	Weak transcription	Right Ventricle	heart
23	chr12:117492600-117496800	Weak transcription	Spleen	Spleen
24	chr12:117493000-117498400	Weak transcription	Placenta	Placenta
25	chr12:117493200-117497800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:117494200-117498800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:117494600-117498800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:117495000-117498400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:117495400-117502600	Weak transcription	A549	lung
32	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
34	chr12:117496200-117497400	Genic enhancers	HepG2	liver
35	chr12:117496200-117498800	Weak transcription	Dnd41	blood
36	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:117496400-117497200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:117496400-117498600	Enhancers	Stomach Mucosa	stomach
39	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:117496600-117496800	Enhancers	Pancreas	Pancrea
42	chr12:117496600-117497200	Enhancers	Gastric	stomach
43	chr12:117496600-117498000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:117496600-117498000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:117496600-117498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:117496600-117500000	Enhancers	Left Ventricle	heart

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