Variant report

Variant	rs73247739
Chromosome Location	chr20:11439036-11439037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12479989	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12480062	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12480222	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12481138	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12481579	0.80[AMR][1000 genomes]
rs12481718	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2327416	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57297338	0.84[ASN][1000 genomes]
rs59106237	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6033133	0.83[AMR][1000 genomes]
rs6033140	0.83[AMR][1000 genomes]
rs6040662	0.83[AMR][1000 genomes]
rs60485829	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73245683	0.95[AMR][1000 genomes]
rs73245698	0.95[AMR][1000 genomes]
rs73247707	0.95[AMR][1000 genomes]
rs73247709	0.83[AMR][1000 genomes]
rs73247714	0.95[AMR][1000 genomes]
rs73247719	0.83[AMR][1000 genomes]
rs73247729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73247735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247736	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247748	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247759	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247773	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247785	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73250009	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73250010	1.00[AMR][1000 genomes];0.94[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11433800-11440000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr20:11434400-11440200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr20:11436200-11439600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:11436200-11439600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr20:11436200-11440200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:11436200-11441200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:11436400-11439400	Enhancers	HMEC	breast
8	chr20:11436600-11448400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:11436800-11440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:11436800-11440000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:11436800-11440000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:11437000-11439200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:11437000-11439400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:11437000-11439400	Weak transcription	Colon Smooth Muscle	Colon
15	chr20:11437000-11439600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:11437000-11439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:11437000-11439800	Weak transcription	HSMMtube	muscle
18	chr20:11437200-11439200	Weak transcription	Fetal Intestine Large	intestine
19	chr20:11437200-11439200	Weak transcription	Fetal Intestine Small	intestine
20	chr20:11437200-11439600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:11437200-11440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr20:11437400-11440200	Weak transcription	HUVEC	blood vessel
23	chr20:11437800-11439200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:11437800-11441200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr20:11437800-11441400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr20:11438400-11440600	Enhancers	A549	lung
27	chr20:11438400-11440800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:11438600-11439800	Weak transcription	NHEK	skin
29	chr20:11438600-11440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:11438800-11439800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr20:11439000-11439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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