Variant report

Variant	rs1356267
Chromosome Location	chr12:39282149-39282150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10160990	1.00[ASW][hapmap];0.85[CEU][hapmap];0.80[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10732735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1095573	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs11169615	0.85[EUR][1000 genomes]
rs11169618	0.85[EUR][1000 genomes]
rs11537523	0.85[EUR][1000 genomes]
rs1400281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1516553	0.90[EUR][1000 genomes]
rs1516557	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1533918	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs1607040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1615648	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs1684426	0.81[EUR][1000 genomes]
rs1719833	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs1719847	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs1719860	0.82[EUR][1000 genomes]
rs1878225	0.80[JPT][hapmap]
rs1914052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1996879	0.88[EUR][1000 genomes]
rs2056529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2069210	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs4002228	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4768394	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974247	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826849	0.85[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs826853	0.85[CEU][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs826860	0.90[JPT][hapmap]
rs826861	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs826862	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs826869	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs826872	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs826884	0.85[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs826885	0.83[EUR][1000 genomes]
rs826887	0.90[JPT][hapmap]
rs826890	0.94[JPT][hapmap]
rs826894	0.89[JPT][hapmap]
rs851933	0.89[JPT][hapmap]
rs862331	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs862332	0.85[EUR][1000 genomes]
rs866120	0.85[CEU][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs908511	0.80[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39204000-39284800	Weak transcription	Lung	lung
2	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
3	chr12:39266400-39283200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39269800-39285800	Weak transcription	Osteobl	bone
5	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39272600-39284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:39276400-39283400	Weak transcription	Left Ventricle	heart
8	chr12:39276600-39282800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:39276800-39283800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:39277800-39287200	Weak transcription	Aorta	Aorta
11	chr12:39278200-39284400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:39279800-39282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:39279800-39283200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:39279800-39285800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:39280000-39284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39280000-39285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:39280200-39283600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:39280400-39284000	Weak transcription	HMEC	breast
19	chr12:39280400-39284000	Weak transcription	NHEK	skin
20	chr12:39280400-39287200	Weak transcription	Colonic Mucosa	Colon
21	chr12:39280800-39282200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:39280800-39282600	Enhancers	Stomach Mucosa	stomach
23	chr12:39280800-39284000	Weak transcription	A549	lung
24	chr12:39280800-39285800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:39281000-39285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:39281000-39286000	Weak transcription	Gastric	stomach
27	chr12:39281200-39283400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:39282000-39282800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:39282000-39283400	Weak transcription	Liver	Liver
30	chr12:39282000-39283800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:39282000-39284800	Weak transcription	Right Atrium	heart

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