Variant report

Variant	rs73622239
Chromosome Location	chr20:52415815-52415816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71192500..71194705-chr20:52414889..52416546,2	MCF-7	breast:
2	chr17:59496898..59499415-chr20:52415404..52417279,2	MCF-7	breast:
3	chr17:57914792..57918180-chr20:52413541..52418064,4	MCF-7	breast:
4	chr17:56707901..56710252-chr20:52413457..52417061,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11907700	0.88[ASN][1000 genomes]
rs73622237	0.91[ASN][1000 genomes]
rs73622238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73622240	1.00[ASN][1000 genomes]
rs73622241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73622242	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv586221	chr20:52392390-52418987	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1064299	chr20:52395560-52420612	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
7	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
8	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52406600-52417200	Weak transcription	K562	blood
2	chr20:52410600-52416400	Weak transcription	Liver	Liver
3	chr20:52411800-52421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:52412000-52417400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:52412200-52421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:52413600-52416400	Enhancers	HepG2	liver
7	chr20:52414000-52421800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:52414400-52417200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr20:52414600-52417000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr20:52415200-52417200	Enhancers	A549	lung
11	chr20:52415400-52416600	Enhancers	HMEC	breast
12	chr20:52415400-52418600	Enhancers	Fetal Intestine Small	intestine
13	chr20:52415600-52416000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52415600-52416000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr20:52415600-52416000	Enhancers	NHEK	skin
16	chr20:52415600-52416600	Enhancers	Esophagus	oesophagus
17	chr20:52415600-52416600	Enhancers	Pancreas	Pancrea
18	chr20:52415600-52418200	Enhancers	Stomach Mucosa	stomach
19	chr20:52415600-52419000	Enhancers	Fetal Intestine Large	intestine
20	chr20:52415800-52416600	Enhancers	Colonic Mucosa	Colon
21	chr20:52415800-52417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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