Variant report

Variant	rs12089732
Chromosome Location	chr1:95204357-95204358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11165239	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057287	1.00[EUR][1000 genomes]
rs12058606	1.00[EUR][1000 genomes]
rs12058766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081570	1.00[EUR][1000 genomes]
rs12083162	1.00[EUR][1000 genomes]
rs12085965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086647	1.00[EUR][1000 genomes]
rs12086825	1.00[EUR][1000 genomes]
rs12091334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091567	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	1.00[EUR][1000 genomes]
rs3931243	1.00[EUR][1000 genomes]
rs56004399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075866	1.00[EUR][1000 genomes]
rs56088880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56989877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58484675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59906561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60642625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61371315	1.00[EUR][1000 genomes]
rs61634360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665321	1.00[EUR][1000 genomes]
rs72956408	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974476	0.97[AFR][1000 genomes]
rs72974480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101528	1.00[EUR][1000 genomes]
rs74101530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540383	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95186200-95211400	Weak transcription	Gastric	stomach
2	chr1:95198200-95205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:95200200-95205800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:95200200-95210200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:95200400-95206000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:95201000-95205200	Weak transcription	Lung	lung
7	chr1:95201200-95205000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:95201200-95205200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:95201400-95205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:95201400-95205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:95201400-95205200	Weak transcription	Placenta	Placenta
12	chr1:95201400-95205200	Weak transcription	Right Ventricle	heart
13	chr1:95201400-95206000	Enhancers	HMEC	breast
14	chr1:95201400-95211400	Weak transcription	Pancreas	Pancrea
15	chr1:95201400-95211400	Weak transcription	Spleen	Spleen
16	chr1:95201400-95212600	Weak transcription	Right Atrium	heart
17	chr1:95201600-95207600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:95201600-95209000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:95201600-95209600	Weak transcription	Fetal Kidney	kidney
20	chr1:95201800-95204600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:95201800-95205000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:95201800-95207000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:95202000-95206000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:95203000-95204600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:95203000-95205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:95203000-95212600	Weak transcription	Ovary	ovary
27	chr1:95203200-95204400	Weak transcription	NHLF	lung
28	chr1:95203200-95205000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:95203200-95205000	Weak transcription	Adipose Nuclei	Adipose
30	chr1:95203200-95205200	Weak transcription	Small Intestine	intestine
31	chr1:95203200-95205200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:95203200-95209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:95203200-95210000	Weak transcription	Left Ventricle	heart
34	chr1:95203200-95212200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:95203400-95204600	Weak transcription	HSMM	muscle
36	chr1:95203400-95204800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:95203400-95204800	Weak transcription	NH-A	brain
38	chr1:95203400-95204800	Weak transcription	NHDF-Ad	bronchial
39	chr1:95203400-95205000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:95203400-95205000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:95203400-95205000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:95203400-95205200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:95203400-95205200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:95203400-95206800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:95203400-95208800	Weak transcription	Dnd41	blood
46	chr1:95203400-95211400	Weak transcription	Stomach Mucosa	stomach
47	chr1:95203400-95212000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:95203600-95204800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:95203600-95205000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:95203600-95205200	Weak transcription	Primary monocytes fromperipheralblood	blood

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