Variant report

Variant	rs73247736
Chromosome Location	chr20:11430237-11430238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12479989	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12480062	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12480222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12481138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12481579	0.80[AMR][1000 genomes]
rs12481718	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2327416	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59106237	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033133	0.83[AMR][1000 genomes]
rs6033140	0.83[AMR][1000 genomes]
rs6040662	0.83[AMR][1000 genomes]
rs60485829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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	1.00[AMR][1000 genomes]
rs73247735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247739	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73247773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73247785	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73250009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73250010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11417000-11432200	Weak transcription	A549	lung
2	chr20:11423800-11432400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:11424800-11432400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:11425000-11432200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:11426400-11432200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:11426600-11432200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr20:11426800-11432200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:11427200-11432200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr20:11427200-11432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:11427200-11432400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:11428400-11431800	Weak transcription	Psoas Muscle	Psoas
12	chr20:11428800-11430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:11428800-11431000	Weak transcription	Fetal Muscle Leg	muscle
14	chr20:11428800-11432200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:11428800-11432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr20:11428800-11432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr20:11428800-11432400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:11428800-11432400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr20:11428800-11432400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:11428800-11432400	Weak transcription	HSMMtube	muscle
21	chr20:11428800-11432600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr20:11428800-11432600	Weak transcription	Esophagus	oesophagus
23	chr20:11429000-11432200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr20:11429000-11432200	Weak transcription	HMEC	breast
25	chr20:11429000-11432400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr20:11429000-11432400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:11429000-11432400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:11429000-11433000	Weak transcription	HUVEC	blood vessel
29	chr20:11429400-11432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:11429400-11432200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr20:11429400-11432400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr20:11429800-11432200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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