Variant report

Variant	rs1486355
Chromosome Location	chr12:39070505-39070506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1095576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168929	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169037	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169105	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169268	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169324	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11559976	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231800	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1486343	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523119	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1523120	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1615648	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1621487	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1684397	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1719833	0.94[AMR][1000 genomes]
rs1719847	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2069210	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2134398	0.84[ASN][1000 genomes]
rs2455609	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455610	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630778	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630782	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653722	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653738	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2653752	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653754	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653760	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653761	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653769	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653775	0.84[ASN][1000 genomes]
rs2730897	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730901	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2730944	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2730946	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730954	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730955	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730957	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2730964	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4354729	0.82[EUR][1000 genomes]
rs60368384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68075931	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269131	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8181765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826839	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826840	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826841	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826845	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs826846	0.86[AMR][1000 genomes]
rs826847	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs826849	0.91[AMR][1000 genomes]
rs826853	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826854	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs826857	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826860	0.84[AMR][1000 genomes]
rs826861	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs826862	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs826867	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs826868	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs826869	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826871	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826872	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826890	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826894	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs851933	0.83[AMR][1000 genomes]
rs862331	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs862332	0.94[AMR][1000 genomes]
rs866120	0.97[AMR][1000 genomes];0.89[EUR][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	chr12:39046000-39085400	Weak transcription	Aorta	Aorta
2	chr12:39046800-39080400	Weak transcription	Spleen	Spleen
3	chr12:39051600-39080400	Weak transcription	Lung	lung
4	chr12:39051600-39080800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:39054600-39071000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39055800-39100800	Weak transcription	NHEK	skin
7	chr12:39056000-39080200	Weak transcription	Ovary	ovary
8	chr12:39056000-39092200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:39056000-39114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
11	chr12:39056200-39078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:39056200-39078400	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39056200-39079000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:39056200-39080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:39056800-39083000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:39057400-39083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:39057600-39072200	Weak transcription	NHDF-Ad	bronchial
18	chr12:39058000-39077600	Weak transcription	HMEC	breast
19	chr12:39058200-39079000	Weak transcription	GM12878-XiMat	blood
20	chr12:39061200-39080400	Weak transcription	A549	lung
21	chr12:39061600-39080200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:39063200-39071800	Strong transcription	Liver	Liver
23	chr12:39063800-39080400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:39063800-39082600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:39064800-39071200	Weak transcription	Esophagus	oesophagus
26	chr12:39065800-39072200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:39066200-39071400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:39066200-39114400	Weak transcription	Pancreas	Pancrea
29	chr12:39066600-39083400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:39066800-39071800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:39067000-39076600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:39068600-39076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:39068800-39071000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:39069000-39071000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:39069000-39079000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:39069000-39080400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:39069400-39114600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:39069800-39076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:39069800-39078600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:39069800-39083000	Weak transcription	Left Ventricle	heart

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