Variant report

Variant	rs3782193
Chromosome Location	chr12:117497066-117497067
allele	A/C
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:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10507278	1.00[JPT][hapmap]
rs11838192	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12299065	0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs16947275	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2173653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270794	0.88[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4238051	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4767473	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4767490	0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs59348125	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490101	1.00[JPT][hapmap]
rs7302025	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7305948	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307907	1.00[JPT][hapmap]
rs73405256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73405273	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954600	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7957907	1.00[JPT][hapmap]
rs7960610	1.00[JPT][hapmap]
rs7962339	0.83[ASN][1000 genomes]
rs7973925	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979277	0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9308	0.90[GIH][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9804817	1.00[JPT][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3782193	HRK	cis	multi-tissue	Pritchard
rs3782193	TESC	cis	Frontal Cortex	GTEx
rs3782193	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

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	chr12:117496200-117497400	Genic enhancers	HepG2	liver
29	chr12:117496200-117498800	Weak transcription	Dnd41	blood
30	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:117496400-117497200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:117496400-117498600	Enhancers	Stomach Mucosa	stomach
33	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:117496600-117497200	Enhancers	Gastric	stomach
36	chr12:117496600-117498000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:117496600-117498000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:117496600-117498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
41	chr12:117496800-117497200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:117496800-117497200	Enhancers	Right Atrium	heart
43	chr12:117496800-117497200	Enhancers	Spleen	Spleen
44	chr12:117496800-117497400	Enhancers	Right Ventricle	heart
45	chr12:117496800-117498000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:117496800-117498000	Enhancers	Brain Anterior Caudate	brain
47	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
48	chr12:117497000-117497200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr12:117497000-117497200	Enhancers	Ovary	ovary
50	chr12:117497000-117497200	Bivalent Enhancer	HSMMtube	muscle

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