Variant report

Variant	rs7133756
Chromosome Location	chr12:49076782-49076783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10747554	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10783273	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10783274	0.87[ASN][1000 genomes]
rs10783275	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783277	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs10783278	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783281	0.85[EUR][1000 genomes]
rs10875849	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs10875850	0.92[ASN][1000 genomes]
rs10875852	0.97[ASN][1000 genomes]
rs10875853	0.97[ASN][1000 genomes]
rs10875861	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875862	0.93[ASN][1000 genomes]
rs1110432	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11168657	0.90[ASN][1000 genomes]
rs11168665	0.97[ASN][1000 genomes]
rs11168674	0.95[ASN][1000 genomes]
rs11168697	0.85[ASN][1000 genomes]
rs11168698	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11168702	0.81[JPT][hapmap]
rs12299955	0.89[ASN][1000 genomes]
rs12426435	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1316514	0.91[ASN][1000 genomes]
rs1863541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895995	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114320	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2162317	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2277365	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2277366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2409085	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2898087	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3209584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35717253	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741628	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741629	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741630	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803025	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3943899	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4113946	0.92[ASN][1000 genomes]
rs4500528	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4760735	0.92[ASN][1000 genomes]
rs4760737	0.93[ASN][1000 genomes]
rs4760739	0.91[ASN][1000 genomes]
rs4760740	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580690	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580692	0.81[EUR][1000 genomes]
rs6580693	0.89[EUR][1000 genomes]
rs7136021	0.81[ASN][1000 genomes]
rs7138190	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138930	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs7139236	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299276	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304711	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7305907	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306604	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308699	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314665	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954446	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7964546	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966065	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973824	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7974151	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7974625	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975030	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975821	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9332441	0.96[ASN][1000 genomes]
rs9634241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9634242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9634262	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7133756	FAM186B	cis	cerebellum	SCAN
rs7133756	ADCY6	cis	parietal	SCAN
rs7133756	WNT10B	cis	Muscle Skeletal	GTEx
rs7133756	ZNF641	cis	cerebellum	SCAN
rs7133756	SNORA2B	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49074200-49076800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:49074400-49076800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:49074400-49076800	Active TSS	A549	lung
4	chr12:49074400-49076800	Active TSS	HMEC	breast
5	chr12:49074400-49077000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:49074400-49077000	Active TSS	K562	blood
7	chr12:49074600-49076800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:49074600-49076800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:49074600-49076800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:49074600-49076800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:49074600-49076800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:49074600-49076800	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:49074600-49077000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:49074600-49077000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:49074600-49077200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:49074800-49076800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:49074800-49076800	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr12:49074800-49076800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:49074800-49076800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:49074800-49076800	Active TSS	Fetal Brain Female	brain
21	chr12:49074800-49076800	Active TSS	Hela-S3	cervix
22	chr12:49074800-49077000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:49074800-49077000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:49074800-49077000	Active TSS	Right Ventricle	heart
25	chr12:49074800-49077200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:49074800-49077200	Active TSS	GM12878-XiMat	blood
27	chr12:49075000-49076800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:49075000-49076800	Active TSS	Colon Smooth Muscle	Colon
29	chr12:49075000-49076800	Active TSS	Fetal Intestine Large	intestine
30	chr12:49075000-49076800	Active TSS	Fetal Intestine Small	intestine
31	chr12:49075000-49076800	Active TSS	Placenta	Placenta
32	chr12:49075000-49076800	Active TSS	HSMMtube	muscle
33	chr12:49075000-49077000	Active TSS	NHEK	skin
34	chr12:49075200-49076800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:49075200-49076800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:49075200-49076800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:49075200-49076800	Active TSS	Brain Hippocampus Middle	brain
38	chr12:49075200-49076800	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:49075200-49076800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:49075200-49076800	Active TSS	Fetal Thymus	thymus
41	chr12:49075200-49076800	Active TSS	Thymus	Thymus
42	chr12:49075200-49076800	Active TSS	HUVEC	blood vessel
43	chr12:49075200-49076800	Active TSS	NH-A	brain
44	chr12:49075200-49077000	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:49075400-49076800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:49075400-49076800	Active TSS	Primary B cells from peripheral blood	blood
47	chr12:49075400-49076800	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr12:49075400-49076800	Active TSS	Brain Anterior Caudate	brain
49	chr12:49075400-49076800	Active TSS	Fetal Stomach	stomach
50	chr12:49075400-49077000	Active TSS	Liver	Liver

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