Variant report

Variant	rs11051418
Chromosome Location	chr12:31550176-31550177
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1012154	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs10743757	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743758	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10743759	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10771827	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771838	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771843	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10771844	0.84[EUR][1000 genomes]
rs10771845	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10771846	0.84[EUR][1000 genomes]
rs10843942	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10843958	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843959	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843963	0.85[EUR][1000 genomes]
rs11051435	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051437	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051439	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051441	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1150942	0.85[CHB][hapmap]
rs1150953	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1150954	0.85[CHB][hapmap]
rs1150955	0.85[CHB][hapmap]
rs11615961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259235	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1259236	0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1259356	0.86[CHB][hapmap]
rs1259359	0.85[CHB][hapmap]
rs1259386	0.82[CHB][hapmap]
rs1259409	0.85[CHB][hapmap]
rs1259428	0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs1259432	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs1259437	0.86[CHB][hapmap]
rs1272773	0.86[CHB][hapmap]
rs1469673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1677189	0.85[CHB][hapmap]
rs1716216	0.93[CHB][hapmap]
rs1996693	0.85[EUR][1000 genomes]
rs2116704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2352048	0.82[EUR][1000 genomes]
rs2568884	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs2617190	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs2617191	0.85[CHB][hapmap]
rs2617200	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs2682697	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2682700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2888762	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35906870	0.80[AMR][1000 genomes]
rs3803113	0.81[EUR][1000 genomes]
rs3844573	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3850965	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs3898368	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4482118	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4930980	0.85[EUR][1000 genomes]
rs4931488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931501	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931506	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4931507	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6416254	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6487989	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6487992	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66521153	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708200	0.81[AMR][1000 genomes]
rs708209	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs708214	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs708219	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7133082	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7134365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135856	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7136476	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7136943	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7137406	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71440988	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7294574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303848	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7307593	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7307616	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313118	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313158	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7313689	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7314417	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793146	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs793154	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793157	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs793174	0.86[CHB][hapmap]
rs793176	0.92[CHB][hapmap]
rs793177	0.86[CHB][hapmap]
rs793180	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs793184	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs793186	0.85[CHB][hapmap]
rs7954023	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954595	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7957026	1.00[CEU][hapmap]
rs7959877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7962896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963161	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7967832	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7968291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7974437	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7975761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7977453	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs899159	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs9738834	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31535600-31560600	Weak transcription	Osteobl	bone
2	chr12:31536000-31550600	Weak transcription	Right Ventricle	heart
3	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
5	chr12:31537200-31555600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
7	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
9	chr12:31538000-31555600	Strong transcription	Liver	Liver
10	chr12:31538400-31555000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:31538600-31551600	Strong transcription	Fetal Intestine Small	intestine
12	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
13	chr12:31539000-31552600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:31539600-31555800	Weak transcription	NH-A	brain
15	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
16	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
17	chr12:31540800-31555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:31540800-31563400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:31540800-31565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:31540800-31572200	Weak transcription	Lung	lung
21	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:31541000-31555800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:31542200-31554000	Weak transcription	Aorta	Aorta
26	chr12:31542200-31566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
28	chr12:31542400-31550600	Weak transcription	HSMMtube	muscle
29	chr12:31542400-31551200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:31542400-31564600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:31542400-31565400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:31542600-31553200	Weak transcription	HepG2	liver
35	chr12:31542600-31555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
38	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:31543000-31551200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:31544200-31555800	Weak transcription	HSMM	muscle
41	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:31544400-31552400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:31544600-31550600	Weak transcription	Adipose Nuclei	Adipose
45	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
46	chr12:31544800-31553600	Weak transcription	Fetal Brain Female	brain
47	chr12:31544800-31554000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:31544800-31565000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:31545400-31552600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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