Variant report

Variant	rs73318135
Chromosome Location	chr20:23618571-23618572
allele	G/T
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	chr20:23617167..23619413-chr20:62495612..62498216,2	MCF-7	breast:
2	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
3	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
4	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
5	chr20:23608610..23615599-chr20:23616056..23619619,19	MCF-7	breast:
6	chr20:23618414..23619171-chr5:138940732..138941254,2	HCT-116	colon:
7	chr20:23342009..23344759-chr20:23616093..23619702,3	MCF-7	breast:
8	chr20:23618106..23618624-chr3:150320619..150321356,2	NB4	blood:
9	chr15:93425841..93426770-chr20:23617945..23618689,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000120742	Chromatin interaction
ENSG00000131508	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000125814	Chromatin interaction
ENSG00000270001	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000125812	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000101150	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1010117	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1011226	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1064039	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12624424	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625182	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625716	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13037490	0.81[EUR][1000 genomes]
rs13038305	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13038337	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13038990	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039536	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13040663	0.81[EUR][1000 genomes]
rs13041070	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13043266	0.84[EUR][1000 genomes]
rs13043610	0.83[EUR][1000 genomes]
rs1555355	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17751897	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2016161	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067488	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2254635	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405367	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2424582	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703706	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3088162	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34374560	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34746357	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34792920	0.81[EUR][1000 genomes]
rs34897231	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911568	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35488434	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573837	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35610040	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35782710	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35966482	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761280	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761281	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3787499	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827141	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3827142	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827143	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815224	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030707	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897275	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56371840	0.83[EUR][1000 genomes]
rs56388902	0.83[EUR][1000 genomes]
rs57549987	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59059917	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036465	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036469	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036470	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036471	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036474	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036476	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036478	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048923	0.81[EUR][1000 genomes]
rs6048928	0.83[EUR][1000 genomes]
rs6048929	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048933	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048936	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048941	0.81[EUR][1000 genomes]
rs6048945	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048946	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048949	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048950	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048952	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048956	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61035931	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114201	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6114206	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6114208	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114209	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515375	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67567111	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67997662	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71334202	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7265178	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7270413	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs734801	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114619	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8115417	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8115423	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8116859	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8121147	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8121283	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8121405	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs911119	0.93[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv964381	chr20:23614805-23621846	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	esv3359195	chr20:23617352-23620750	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3377051	chr20:23617777-23620325	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3336303	chr20:23617902-23620300	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23616400-23618600	Active TSS	Brain Hippocampus Middle	brain
2	chr20:23616800-23618600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr20:23617000-23618600	Active TSS	Brain Substantia Nigra	brain
4	chr20:23617200-23618800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr20:23617200-23618800	Active TSS	Brain Cingulate Gyrus	brain
6	chr20:23617400-23618600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:23617400-23618600	Active TSS	Brain Angular Gyrus	brain
8	chr20:23617400-23618600	Active TSS	Esophagus	oesophagus
9	chr20:23617400-23618600	Active TSS	Fetal Intestine Small	intestine
10	chr20:23617400-23618600	Active TSS	Left Ventricle	heart
11	chr20:23617400-23618600	Active TSS	Ovary	ovary
12	chr20:23617400-23618600	Active TSS	NHDF-Ad	bronchial
13	chr20:23617400-23618800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:23617400-23618800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:23617400-23618800	Active TSS	Psoas Muscle	Psoas
16	chr20:23617400-23618800	Active TSS	Right Atrium	heart
17	chr20:23617400-23618800	Active TSS	Right Ventricle	heart
18	chr20:23617600-23618600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr20:23617600-23618600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:23617600-23618600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:23617600-23618600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:23617600-23618600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:23617600-23618600	Active TSS	Primary T cells from cord blood	blood
24	chr20:23617600-23618600	Active TSS	Aorta	Aorta
25	chr20:23617600-23618600	Active TSS	Colon Smooth Muscle	Colon
26	chr20:23617600-23618600	Active TSS	Duodenum Mucosa	Duodenum
27	chr20:23617600-23618600	Active TSS	Fetal Kidney	kidney
28	chr20:23617600-23618600	Active TSS	Gastric	stomach
29	chr20:23617600-23618600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr20:23617600-23618600	Active TSS	Small Intestine	intestine
31	chr20:23617600-23618600	Active TSS	HMEC	breast
32	chr20:23617600-23618600	Active TSS	NHLF	lung
33	chr20:23617600-23618800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:23617600-23618800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:23617600-23618800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:23617600-23618800	Active TSS	Primary B cells from cord blood	blood
37	chr20:23617600-23618800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr20:23617600-23618800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:23617600-23618800	Active TSS	Colonic Mucosa	Colon
40	chr20:23617600-23618800	Active TSS	Fetal Intestine Large	intestine
41	chr20:23617600-23618800	Active TSS	Lung	lung
42	chr20:23617600-23618800	Active TSS	Pancreas	Pancrea
43	chr20:23617600-23618800	Active TSS	Hela-S3	cervix
44	chr20:23617600-23618800	Active TSS	NHEK	skin
45	chr20:23617600-23619200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr20:23617600-23619200	Active TSS	Fetal Brain Female	brain
47	chr20:23617800-23618600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:23617800-23618600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr20:23617800-23618600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
50	chr20:23617800-23618600	Active TSS	Liver	Liver

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