Variant report

Variant	rs56220253
Chromosome Location	chr2:20770773-20770774
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	chr2:20767932..20773273-chr2:20783089..20788305,5	K562	blood:
2	chr2:20645867..20648362-chr2:20770635..20772799,2	MCF-7	breast:
3	chr2:20765929..20768353-chr2:20769988..20771699,2	MCF-7	breast:
4	chr2:20768678..20771590-chr2:20774793..20776320,2	K562	blood:
5	chr2:20761275..20762920-chr2:20768974..20770840,2	K562	blood:
6	chr2:20769420..20771679-chr2:20786240..20787993,2	K562	blood:
7	chr2:20649039..20651815-chr2:20770152..20773876,3	MCF-7	breast:
8	chr2:20769124..20771781-chr2:20783924..20785551,2	MCF-7	breast:
9	chr2:20770603..20772364-chr2:20811267..20812996,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13384848	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412584	0.82[ASN][1000 genomes]
rs13424119	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431026	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718362	0.96[EUR][1000 genomes]
rs17718518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666428	1.00[ASN][1000 genomes]
rs57203893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57818033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59199298	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60856046	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20751600-20772600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:20764400-20778200	Enhancers	HepG2	liver
3	chr2:20764800-20771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:20765000-20772000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
6	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
7	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
8	chr2:20766000-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
10	chr2:20766200-20773400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:20766400-20772800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
15	chr2:20767000-20781000	Enhancers	Right Atrium	heart
16	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
17	chr2:20767400-20772200	Enhancers	Lung	lung
18	chr2:20767400-20774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:20767400-20774600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:20767800-20770800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:20768000-20773400	Weak transcription	Fetal Lung	lung
25	chr2:20768200-20772800	Enhancers	Liver	Liver
26	chr2:20768400-20774800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:20768600-20773600	Weak transcription	Fetal Heart	heart
28	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:20768800-20771400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:20768800-20773400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:20769000-20770800	Weak transcription	Spleen	Spleen
32	chr2:20769000-20773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:20769200-20773400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:20769200-20774600	Enhancers	Fetal Intestine Small	intestine
35	chr2:20769200-20777000	Weak transcription	HMEC	breast
36	chr2:20769400-20770800	Enhancers	Brain Substantia Nigra	brain
37	chr2:20769400-20771200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:20769400-20773200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:20769400-20773600	Weak transcription	Fetal Brain Female	brain
40	chr2:20769400-20780000	Enhancers	Fetal Intestine Large	intestine
41	chr2:20769600-20771800	Weak transcription	NH-A	brain
42	chr2:20769600-20772800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:20769600-20773000	Weak transcription	Osteobl	bone
44	chr2:20769600-20773200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:20769600-20773400	Weak transcription	NHDF-Ad	bronchial
46	chr2:20769800-20771400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:20769800-20771600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:20769800-20772800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:20769800-20773200	Weak transcription	Fetal Brain Male	brain
50	chr2:20769800-20773600	Weak transcription	NHEK	skin

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