Variant report

Variant	rs73265850
Chromosome Location	chr20:41724990-41724991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16987770	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16987781	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16987821	0.90[EUR][1000 genomes]
rs2867652	0.90[EUR][1000 genomes]
rs34785326	0.97[ASN][1000 genomes]
rs6030655	0.97[ASN][1000 genomes]
rs74171223	0.94[ASN][1000 genomes]
rs869887	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv949221	chr20:41594025-41742176	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv869774	chr20:41595567-41746533	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2762078	chr20:41598181-41745491	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv948829	chr20:41598995-41742176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1065908	chr20:41620966-41735969	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3452128	chr20:41724810-41725017	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41720800-41725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:41724200-41727800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:41724400-41725800	Enhancers	Fetal Brain Female	brain
4	chr20:41724400-41726600	Enhancers	Fetal Stomach	stomach
5	chr20:41724600-41725000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:41724600-41725000	Enhancers	Fetal Kidney	kidney
7	chr20:41724600-41725800	Enhancers	Brain Germinal Matrix	brain
8	chr20:41724600-41725800	Enhancers	Fetal Brain Male	brain
9	chr20:41724600-41726400	Enhancers	Fetal Muscle Leg	muscle
10	chr20:41724600-41726600	Enhancers	Brain Hippocampus Middle	brain
11	chr20:41724600-41727600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:41724800-41725000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr20:41724800-41725400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr20:41724800-41725800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:41724800-41725800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr20:41724800-41725800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:41724800-41725800	Enhancers	Brain Anterior Caudate	brain
18	chr20:41724800-41725800	Enhancers	Fetal Lung	lung
19	chr20:41724800-41726000	Enhancers	Brain Angular Gyrus	brain
20	chr20:41724800-41726000	Enhancers	Brain Cingulate Gyrus	brain
21	chr20:41724800-41726200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr20:41724800-41726600	Enhancers	Brain Substantia Nigra	brain
23	chr20:41724800-41726600	Enhancers	Colon Smooth Muscle	Colon

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