Variant report

Variant	rs12036943
Chromosome Location	chr1:92079043-92079044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1041159	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1041160	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10782974	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10782975	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874830	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874833	0.84[AMR][1000 genomes]
rs11165071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165072	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1192404	0.88[ASN][1000 genomes]
rs1192408	0.87[ASN][1000 genomes]
rs1192411	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1192413	0.82[ASN][1000 genomes]
rs1192414	0.92[ASN][1000 genomes]
rs1192415	0.92[ASN][1000 genomes]
rs1192419	0.92[ASN][1000 genomes]
rs12028715	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028723	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12031478	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12032884	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12033679	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037771	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2136115	0.92[ASN][1000 genomes]
rs2136116	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2174951	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2840239	0.92[ASN][1000 genomes]
rs35308020	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35370265	0.82[EUR][1000 genomes]
rs4658101	0.92[ASN][1000 genomes]
rs4658103	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4658246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6604047	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6604048	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6604049	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671034	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs981554	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
2	chr1:92073800-92079400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92074000-92080000	Enhancers	NHDF-Ad	bronchial
4	chr1:92074800-92080000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:92075400-92079400	Weak transcription	Fetal Heart	heart
6	chr1:92075800-92079200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:92075800-92079400	Enhancers	A549	lung
8	chr1:92075800-92088200	Weak transcription	Right Atrium	heart
9	chr1:92076200-92079200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:92076200-92079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:92077200-92079200	Weak transcription	NHLF	lung
12	chr1:92077400-92079200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:92077400-92079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:92077400-92082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:92077400-92082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:92077600-92079200	Weak transcription	NHEK	skin
17	chr1:92077800-92079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:92077800-92079200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:92077800-92079200	Weak transcription	Stomach Mucosa	stomach
20	chr1:92077800-92083400	Enhancers	Hela-S3	cervix
21	chr1:92078000-92079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:92078000-92079200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:92078000-92079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:92078000-92079200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:92078000-92079200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:92078000-92082800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:92078000-92082800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:92078000-92082800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:92078000-92082800	Weak transcription	Lung	lung
30	chr1:92078000-92083200	Weak transcription	Colonic Mucosa	Colon
31	chr1:92078000-92088200	Weak transcription	Ovary	ovary
32	chr1:92078200-92079200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:92078200-92079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:92078200-92079200	Weak transcription	Placenta	Placenta
35	chr1:92078200-92079400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:92078200-92082200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:92078400-92079200	Weak transcription	HSMM	muscle
38	chr1:92078600-92079400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:92078800-92079600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:92079000-92080000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:92079000-92080000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:92079000-92080000	Enhancers	HSMMtube	muscle

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