Variant report

Variant	rs7311081
Chromosome Location	chr12:29431168-29431169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10450679	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1052583	0.82[EUR][1000 genomes]
rs10743651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10743652	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10843365	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843372	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843402	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs11050200	0.82[EUR][1000 genomes]
rs1120528	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059362	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2194517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2350316	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2882294	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782507	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3782508	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3782510	0.81[CHB][hapmap]
rs4370971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4412790	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6487789	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487791	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487795	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487796	0.81[CEU][hapmap]
rs6487797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487799	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6487800	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6487802	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6487803	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7134187	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7137141	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295056	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7295212	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7299772	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7300032	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301575	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7302399	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303960	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73063614	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7308534	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7316026	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs766445	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7954375	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954990	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7968167	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7968883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971296	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7972032	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7974254	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976227	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976667	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9669514	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9738165	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7311081	RP11-996F15.2	cis	lung	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29414400-29434000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29420400-29435000	Weak transcription	HUVEC	blood vessel
4	chr12:29420600-29431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:29421000-29432000	Weak transcription	Adipose Nuclei	Adipose
6	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
7	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:29422200-29434800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:29422400-29434400	Weak transcription	Fetal Kidney	kidney
10	chr12:29424600-29435200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:29424800-29433400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:29424800-29434800	Weak transcription	Dnd41	blood
13	chr12:29425000-29434400	Weak transcription	Fetal Stomach	stomach
14	chr12:29425200-29435600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:29426600-29431400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:29426600-29434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:29426600-29440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:29426800-29432200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:29426800-29433600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:29426800-29436200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:29426800-29440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:29427000-29431200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:29427000-29433600	Weak transcription	Spleen	Spleen
25	chr12:29427000-29435200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
28	chr12:29427800-29432000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:29427800-29438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:29428600-29434200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:29429000-29432000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:29429000-29433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
34	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:29430200-29432600	Enhancers	NH-A	brain
37	chr12:29430200-29432800	Enhancers	NHDF-Ad	bronchial
38	chr12:29430400-29431400	Weak transcription	Osteobl	bone
39	chr12:29430600-29431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:29430600-29431400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:29430600-29431400	Enhancers	Fetal Intestine Large	intestine
42	chr12:29430800-29431200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:29430800-29431600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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