Variant report

Variant	rs1805720
Chromosome Location	chr12:9148744-9148745
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10492114	0.85[JPT][hapmap]
rs10771407	0.85[JPT][hapmap]
rs10842665	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11048353	0.81[ASN][1000 genomes]
rs11608867	0.85[JPT][hapmap]
rs11609582	0.85[JPT][hapmap]
rs11611433	0.85[JPT][hapmap]
rs11613746	0.85[JPT][hapmap]
rs11615143	0.85[JPT][hapmap]
rs11615443	0.85[JPT][hapmap]
rs11834163	0.82[JPT][hapmap]
rs12426857	0.85[ASN][1000 genomes]
rs16917971	0.85[JPT][hapmap]
rs16918162	0.85[JPT][hapmap]
rs1805731	0.83[MEX][hapmap]
rs1863838	0.85[JPT][hapmap]
rs226406	0.85[JPT][hapmap]
rs3213832	0.85[JPT][hapmap]
rs3741849	0.85[JPT][hapmap]
rs3741850	0.85[JPT][hapmap]
rs3741852	0.85[JPT][hapmap]
rs4883213	0.85[JPT][hapmap]
rs55939602	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6487636	0.85[JPT][hapmap]
rs7296295	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs7298117	0.85[JPT][hapmap]
rs7298673	0.85[JPT][hapmap]
rs7970135	0.85[JPT][hapmap]
rs887783	0.83[MEX][hapmap]
rs9888309	0.85[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1805720	M6PR	cis	cerebellum	SCAN
rs1805720	C12orf57	cis	cerebellum	SCAN
rs1805720	TAS2R8	cis	parietal	SCAN
rs1805720	M6PR	cis	parietal	SCAN
rs1805720	KLRB1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9142800-9149000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:9145000-9149400	Weak transcription	Adipose Nuclei	Adipose
6	chr12:9145800-9149200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:9146400-9161200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:9146800-9149400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:9147200-9150200	Enhancers	HUVEC	blood vessel
10	chr12:9147200-9150600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:9147400-9150800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:9147400-9151000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9147600-9148800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:9147600-9149000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
15	chr12:9147600-9150600	Enhancers	Placenta	Placenta
16	chr12:9147800-9149800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:9148000-9151000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9148200-9149000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:9148200-9149200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:9148200-9149400	Enhancers	Primary T cells from cord blood	blood
21	chr12:9148200-9150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:9148200-9151200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:9148200-9152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9148200-9152800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:9148600-9148800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:9148600-9149200	Enhancers	GM12878-XiMat	blood
27	chr12:9148600-9149400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:9148600-9150000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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