Variant report

Variant	rs57818033
Chromosome Location	chr2:20773210-20773211
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20767932..20773273-chr2:20783089..20788305,5	K562	blood:
2	chr2:20761310..20763997-chr2:20772570..20774181,2	K562	blood:
3	chr2:20765813..20767349-chr2:20771074..20773656,2	K562	blood:
4	chr2:20772999..20776929-chr2:20778925..20783592,5	MCF-7	breast:
5	chr2:20771832..20774645-chr2:20774771..20777739,3	K562	blood:
6	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
7	chr2:20767067..20768963-chr2:20770778..20773313,2	MCF-7	breast:
8	chr2:20773082..20775032-chr2:20787909..20789864,2	MCF-7	breast:
9	chr2:20649039..20651815-chr2:20770152..20773876,3	MCF-7	breast:
10	chr2:20753369..20755156-chr2:20771660..20773736,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000269976	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13384848	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13424119	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13431026	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17718362	0.96[EUR][1000 genomes]
rs17718518	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4666428	0.82[ASN][1000 genomes]
rs56220253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57203893	0.81[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];0.82[ASN][1000 genomes]
rs60856046	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20764400-20778200	Enhancers	HepG2	liver
2	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
3	chr2:20765800-20773600	Weak transcription	Fetal Thymus	thymus
4	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
5	chr2:20766000-20773600	Weak transcription	Fetal Kidney	kidney
6	chr2:20766200-20773400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:20766400-20776000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
10	chr2:20767000-20781000	Enhancers	Right Atrium	heart
11	chr2:20767200-20776600	Enhancers	Right Ventricle	heart
12	chr2:20767400-20774400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:20767400-20774600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:20768000-20773400	Weak transcription	Fetal Lung	lung
18	chr2:20768400-20774800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:20768600-20773600	Weak transcription	Fetal Heart	heart
20	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:20768800-20773400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:20769200-20773400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:20769200-20774600	Enhancers	Fetal Intestine Small	intestine
24	chr2:20769200-20777000	Weak transcription	HMEC	breast
25	chr2:20769400-20773600	Weak transcription	Fetal Brain Female	brain
26	chr2:20769400-20780000	Enhancers	Fetal Intestine Large	intestine
27	chr2:20769600-20773400	Weak transcription	NHDF-Ad	bronchial
28	chr2:20769800-20773600	Weak transcription	NHEK	skin
29	chr2:20769800-20774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:20769800-20781000	Enhancers	Fetal Muscle Leg	muscle
31	chr2:20770200-20773400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:20770400-20773600	Weak transcription	Esophagus	oesophagus
33	chr2:20771200-20774600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:20771400-20774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:20771400-20774800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:20771400-20775000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:20771600-20773400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:20771600-20777200	Weak transcription	Psoas Muscle	Psoas
39	chr2:20771600-20777400	Weak transcription	Small Intestine	intestine
40	chr2:20771800-20773400	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:20771800-20773600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:20771800-20775000	Enhancers	NH-A	brain
43	chr2:20772000-20773600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20772200-20773600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:20772200-20773600	Weak transcription	Lung	lung
46	chr2:20772200-20775200	Weak transcription	GM12878-XiMat	blood
47	chr2:20772400-20773600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:20772600-20781000	Enhancers	Placenta	Placenta
49	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:20772800-20773600	Weak transcription	Spleen	Spleen

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