Variant report

Variant	rs7136911
Chromosome Location	chr12:75727140-75727141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10506668	0.81[JPT][hapmap]
rs10879900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10879902	0.87[CHB][hapmap]
rs10879903	0.86[CHB][hapmap]
rs11180441	0.83[JPT][hapmap]
rs11180455	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs11180456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180458	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180460	0.89[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11180465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11180473	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180474	0.86[CHB][hapmap]
rs11180475	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180483	0.81[JPT][hapmap]
rs11520223	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11610111	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11610112	0.82[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11831200	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs11837697	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12366348	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12367329	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12368429	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369556	0.81[JPT][hapmap]
rs12369854	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12372516	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581416	0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3087687	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4394867	0.81[JPT][hapmap]
rs4565940	0.81[JPT][hapmap]
rs4623941	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4882616	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes]
rs4882618	0.81[JPT][hapmap]
rs4882687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60971359	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs7298343	0.85[CEU][hapmap]
rs73364090	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73364096	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954879	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967619	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970188	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978312	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv520424	chr12:75646788-75740883	Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv526556	chr12:75653281-75740883	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1054059	chr12:75654631-75776721	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7136911	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs7136911	RP11-585P4.5	cis	Artery Tibial	GTEx
rs7136911	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs7136911	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs7136911	GLIPR1L2	cis	lung	GTEx
rs7136911	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs7136911	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs7136911	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs7136911	RP11-585P4.5	cis	Esophagus Mucosa	GTEx
rs7136911	GLIPR1L2	cis	Nerve Tibial	GTEx
rs7136911	RP11-585P4.5	cis	Thyroid	GTEx
rs7136911	GLIPR1L2	cis	Stomach	GTEx
rs7136911	RP11-585P4.5	cis	Muscle Skeletal	GTEx
rs7136911	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs7136911	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs7136911	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs7136911	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs7136911	GLIPR1L2	cis	Thyroid	GTEx
rs7136911	GLIPR1L2	cis	Artery Tibial	GTEx
rs7136911	GLIPR1L2	cis	Artery Aorta	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75724000-75728000	Weak transcription	Stomach Mucosa	stomach
2	chr12:75724000-75728000	Weak transcription	Spleen	Spleen
3	chr12:75724000-75728400	Weak transcription	Fetal Heart	heart
4	chr12:75724200-75728000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:75724200-75728000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:75724200-75728000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:75724200-75728000	Weak transcription	Placenta	Placenta
8	chr12:75724200-75728000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:75724200-75728000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:75724200-75728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:75724200-75728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:75724200-75728200	Weak transcription	Lung	lung
13	chr12:75724200-75728200	Weak transcription	Pancreas	Pancrea
14	chr12:75724200-75728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:75724200-75728400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:75724200-75728400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:75724400-75727600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:75724400-75727600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:75724400-75727600	Weak transcription	NHLF	lung
20	chr12:75724400-75727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:75724400-75727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:75724400-75727800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:75724400-75728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:75724400-75728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:75724400-75728000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:75724400-75728000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:75724400-75728000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:75724400-75728000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:75724400-75728000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:75724400-75728000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:75724400-75728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:75724400-75728000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:75724400-75728000	Weak transcription	Adipose Nuclei	Adipose
34	chr12:75724400-75728000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:75724400-75728000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:75724400-75728000	Weak transcription	Fetal Kidney	kidney
37	chr12:75724400-75728000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:75724400-75728000	Weak transcription	Fetal Thymus	thymus
39	chr12:75724400-75728000	Weak transcription	Right Atrium	heart
40	chr12:75724400-75728000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:75724400-75728000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:75724400-75728000	Weak transcription	HMEC	breast
43	chr12:75724400-75728000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:75724400-75728000	Weak transcription	NH-A	brain
45	chr12:75724400-75728000	Weak transcription	NHDF-Ad	bronchial
46	chr12:75724400-75728000	Weak transcription	Osteobl	bone
47	chr12:75724400-75728200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:75724400-75728200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:75724400-75728200	Weak transcription	HUVEC	blood vessel
50	chr12:75724400-75728400	Weak transcription	H1 Cell Line	embryonic stem cell

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