Variant report

Variant	rs7273809
Chromosome Location	chr20:52426020-52426021
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52423366..52426072-chr20:55815498..55818114,2	MCF-7	breast:
2	chr20:52425694..52426394-chr20:52488503..52489498,2	MCF-7	breast:
3	chr17:57914402..57919000-chr20:52421915..52427149,7	MCF-7	breast:
4	chr20:52424950..52427553-chr3:89710194..89711857,2	MCF-7	breast:
5	chr20:52386923..52389172-chr20:52424998..52427663,3	K562	blood:
6	chr20:52406521..52409558-chr20:52424093..52427549,3	K562	blood:
7	chr16:85492452..85494325-chr20:52425691..52428180,2	MCF-7	breast:
8	chr20:52424572..52427398-chr6:58777006..58778744,2	MCF-7	breast:
9	chr20:52425734..52426665-chr20:52488330..52488904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199004	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10211708	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10211779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211847	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10211852	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904880	0.83[AFR][1000 genomes]
rs16998448	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2870289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4597593	1.00[CEU][hapmap]
rs6097589	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097595	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097599	0.82[AFR][1000 genomes]
rs6097600	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097601	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097604	1.00[CEU][hapmap]
rs6097605	1.00[CEU][hapmap]
rs6097619	1.00[CEU][hapmap]
rs67891850	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272038	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272049	1.00[AFR][1000 genomes]
rs8120680	0.89[EUR][1000 genomes]
rs8126424	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv1063442	chr20:52400519-52428220	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52418600-52430000	Weak transcription	Esophagus	oesophagus
2	chr20:52422600-52431400	Weak transcription	HepG2	liver
3	chr20:52423600-52432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:52423800-52430400	Weak transcription	NHDF-Ad	bronchial
5	chr20:52423800-52436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52425400-52426200	Enhancers	Brain Germinal Matrix	brain
7	chr20:52425400-52426400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:52425400-52426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:52425400-52426400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:52425600-52426200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:52425600-52426200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:52425600-52426200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:52425600-52426200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr20:52425600-52426200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:52425600-52426200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr20:52425600-52426400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr20:52425600-52427200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:52425600-52427400	Enhancers	A549	lung
19	chr20:52425800-52426200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:52425800-52426200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:52425800-52426200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:52425800-52426200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:52425800-52426200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:52425800-52426200	Enhancers	NHEK	skin
25	chr20:52426000-52426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:52426000-52426400	Weak transcription	Rectal Mucosa Donor 31	rectum

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