Variant report

Variant	rs7971075
Chromosome Location	chr12:39066418-39066419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10506126	0.88[JPT][hapmap]
rs10783317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783333	0.88[JPT][hapmap]
rs10875684	0.83[EUR][1000 genomes]
rs10875817	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875944	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875945	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875950	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875951	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875953	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10875954	0.81[ASN][1000 genomes]
rs10875961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876008	0.88[JPT][hapmap]
rs11168202	0.83[EUR][1000 genomes]
rs11168802	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168978	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169006	0.81[ASN][1000 genomes]
rs11169054	0.88[JPT][hapmap]
rs11169086	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169100	0.81[ASN][1000 genomes]
rs11169189	0.81[ASN][1000 genomes]
rs11169258	0.88[JPT][hapmap]
rs11514109	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12231313	0.81[ASN][1000 genomes]
rs12314639	0.88[JPT][hapmap]
rs12368548	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424190	0.88[JPT][hapmap]
rs12822023	0.81[ASN][1000 genomes]
rs12831609	0.81[ASN][1000 genomes]
rs1386018	0.88[JPT][hapmap]
rs1472658	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1486341	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1684405	0.81[GIH][hapmap]
rs1875610	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2062758	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2220267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387982	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2387983	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759139	0.88[JPT][hapmap]
rs4616077	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4768225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768240	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61937754	0.81[ASN][1000 genomes]
rs6580664	0.91[ASN][1000 genomes]
rs6580697	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580718	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580755	1.00[YRI][hapmap]
rs7294397	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315746	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316392	0.81[ASN][1000 genomes]
rs7960616	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7970273	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9705969	0.84[ASN][1000 genomes]
rs9739497	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1045040	chr12:39038114-39084094	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39045400-39068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:39046000-39085400	Weak transcription	Aorta	Aorta
3	chr12:39046800-39080400	Weak transcription	Spleen	Spleen
4	chr12:39051600-39080400	Weak transcription	Lung	lung
5	chr12:39051600-39080800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:39054600-39071000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:39055800-39100800	Weak transcription	NHEK	skin
8	chr12:39056000-39080200	Weak transcription	Ovary	ovary
9	chr12:39056000-39092200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:39056000-39114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
12	chr12:39056200-39078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:39056200-39078400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:39056200-39079000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:39056200-39080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:39056800-39083000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:39057400-39070200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:39057400-39083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:39057600-39072200	Weak transcription	NHDF-Ad	bronchial
20	chr12:39057800-39069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:39058000-39077600	Weak transcription	HMEC	breast
22	chr12:39058200-39079000	Weak transcription	GM12878-XiMat	blood
23	chr12:39060400-39066800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:39060400-39067600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:39061200-39080400	Weak transcription	A549	lung
26	chr12:39061600-39080200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:39063200-39071800	Strong transcription	Liver	Liver
28	chr12:39063400-39066600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:39063800-39069600	Weak transcription	Left Ventricle	heart
30	chr12:39063800-39080400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:39063800-39082600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:39064200-39067800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:39064800-39071200	Weak transcription	Esophagus	oesophagus
34	chr12:39065000-39067200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:39065400-39069000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr12:39065800-39072200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:39066000-39069800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:39066200-39068800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:39066200-39071400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:39066200-39114400	Weak transcription	Pancreas	Pancrea

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