Variant report

Variant	rs12214837
Chromosome Location	chr6:78078858-78078859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10455107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10943440	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10943442	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10943444	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10943448	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10943450	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10943455	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10943458	1.00[AFR][1000 genomes]
rs11509441	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11963068	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11963096	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12189579	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12191358	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12193279	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12193587	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12194566	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12195192	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12196751	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12196920	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12199380	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12201820	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12202106	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12203487	1.00[AFR][1000 genomes]
rs12205293	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12206089	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12206101	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12207134	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12207458	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12211642	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12214471	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12214530	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215818	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1342630	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1343338	0.99[EUR][1000 genomes]
rs16888733	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4142467	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57497739	1.00[AFR][1000 genomes]
rs60223508	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62416424	1.00[AFR][1000 genomes]
rs6899577	1.00[AFR][1000 genomes]
rs6910682	0.84[AMR][1000 genomes]
rs72892779	1.00[AFR][1000 genomes]
rs72894652	1.00[AFR][1000 genomes]
rs72894702	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896610	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896611	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896613	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896615	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72896661	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72896663	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72898730	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72898733	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72898736	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72898752	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72898768	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72898774	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72898792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72900711	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78076000-78079000	Active TSS	HUVEC	blood vessel
2	chr6:78076600-78079000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:78076600-78079000	Active TSS	NHEK	skin
4	chr6:78076600-78079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:78077000-78079000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:78077000-78079000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:78077000-78079000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:78077000-78079200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:78077200-78079000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:78077200-78079400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:78077400-78079000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:78077400-78079000	Active TSS	NHDF-Ad	bronchial
13	chr6:78077400-78079000	Active TSS	NHLF	lung
14	chr6:78077600-78079000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:78077600-78079200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:78077600-78079200	Active TSS	Right Atrium	heart
17	chr6:78077800-78079000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:78077800-78079000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:78077800-78079000	Active TSS	Adipose Nuclei	Adipose
20	chr6:78077800-78079000	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:78077800-78079200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:78078000-78079000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:78078000-78079000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:78078000-78079000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:78078000-78079000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:78078000-78079000	Active TSS	NH-A	brain
27	chr6:78078000-78079200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:78078000-78079200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:78078000-78079200	Active TSS	Osteobl	bone
30	chr6:78078200-78079000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:78078200-78079000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:78078200-78079000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:78078200-78079000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:78078200-78079000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:78078200-78079000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:78078200-78079000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:78078200-78079000	Active TSS	Primary B cells from cord blood	blood
38	chr6:78078200-78079000	Active TSS	Primary hematopoietic stem cells	blood
39	chr6:78078200-78079000	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr6:78078200-78079000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:78078200-78079000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:78078200-78079000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:78078200-78079000	Active TSS	Fetal Intestine Large	intestine
44	chr6:78078200-78079000	Active TSS	Fetal Lung	lung
45	chr6:78078200-78079000	Active TSS	Left Ventricle	heart
46	chr6:78078200-78079000	Active TSS	Ovary	ovary
47	chr6:78078200-78079000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:78078200-78079000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:78078200-78079000	Active TSS	Right Ventricle	heart
50	chr6:78078200-78079200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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