Variant report

Variant	rs7297446
Chromosome Location	chr12:117498150-117498151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10850743	0.81[CHB][hapmap]
rs10850753	0.90[ASN][1000 genomes]
rs11068245	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs11068247	0.93[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs11068258	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11068262	0.90[JPT][hapmap]
rs11068280	0.92[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068282	0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs11068286	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11068302	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11068303	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11068310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12368874	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17583145	0.89[JPT][hapmap]
rs17616662	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2242469	0.82[JPT][hapmap]
rs2270792	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2270793	0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2291912	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3782189	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs3782190	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs3803089	0.90[JPT][hapmap]
rs4347476	0.90[JPT][hapmap]
rs59578958	0.87[ASN][1000 genomes]
rs7136629	0.86[CHB][hapmap];0.90[JPT][hapmap]

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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
4	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
5	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:117490800-117498200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:117491000-117498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:117491400-117498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:117491400-117498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:117491600-117498200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
14	chr12:117493000-117498400	Weak transcription	Placenta	Placenta
15	chr12:117494200-117498800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:117494600-117498800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:117495000-117498400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:117495400-117502600	Weak transcription	A549	lung
21	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
23	chr12:117496200-117498800	Weak transcription	Dnd41	blood
24	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117496400-117498600	Enhancers	Stomach Mucosa	stomach
26	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:117496600-117498200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
31	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
32	chr12:117497000-117498400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:117497000-117498400	Weak transcription	Pancreas	Pancrea
34	chr12:117497200-117498200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:117497200-117498200	Weak transcription	Right Atrium	heart
36	chr12:117497200-117498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:117497200-117499000	Weak transcription	Spleen	Spleen
38	chr12:117497200-117500400	Weak transcription	Gastric	stomach
39	chr12:117497400-117498600	Enhancers	HepG2	liver
40	chr12:117497600-117498200	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:117497800-117498800	Enhancers	Fetal Brain Female	brain
42	chr12:117497800-117499000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:117497800-117499200	Enhancers	Fetal Brain Male	brain
44	chr12:117497800-117499600	Enhancers	Right Ventricle	heart
45	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
46	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:117498000-117498200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:117498000-117498200	Enhancers	Fetal Intestine Large	intestine
49	chr12:117498000-117498400	Enhancers	Brain Substantia Nigra	brain
50	chr12:117498000-117498400	Bivalent Enhancer	NH-A	brain

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