Variant report

Variant	rs73085418
Chromosome Location	chr20:13856558-13856559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11698034	0.94[EUR][1000 genomes]
rs17263416	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs243913	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55722769	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042392	0.87[ASN][1000 genomes]
rs6134992	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13851800-13862400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:13854200-13857200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:13854400-13856600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:13854400-13856800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:13854400-13857400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr20:13854400-13857400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:13854400-13857600	Enhancers	Colon Smooth Muscle	Colon
8	chr20:13854600-13859800	Enhancers	Rectal Smooth Muscle	rectum
9	chr20:13854600-13860000	Enhancers	Fetal Stomach	stomach
10	chr20:13854800-13856800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:13855000-13856800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:13855400-13856800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:13855400-13857200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:13855400-13857400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr20:13855400-13857400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:13855600-13857400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:13855600-13858600	Weak transcription	Fetal Kidney	kidney
18	chr20:13855800-13856600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr20:13855800-13856800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr20:13855800-13856800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:13855800-13857000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:13855800-13857200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:13855800-13857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr20:13855800-13857400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr20:13855800-13857400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:13855800-13858200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr20:13855800-13858400	Weak transcription	Brain Anterior Caudate	brain
28	chr20:13855800-13858600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr20:13855800-13859800	Enhancers	Stomach Smooth Muscle	stomach
30	chr20:13855800-13862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:13856000-13856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:13856000-13857200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr20:13856000-13857400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr20:13856200-13856600	Enhancers	Fetal Intestine Large	intestine
35	chr20:13856400-13856600	Enhancers	Fetal Intestine Small	intestine

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