Variant report

Variant	rs8020840
Chromosome Location	chr14:20815753-20815754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr14:20815747-20816419	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20811638..20813233-chr14:20813576..20815950,2	MCF-7	breast:

Variant related genes	Relation type
PARP2	TF binding region
RPPH1	TF binding region
ENSG00000254846	TF binding region
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1713411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1713412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1713432	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1713433	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1760914	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1760915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1760916	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1760917	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1760920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1760921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1760924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1760925	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2249141	0.83[AMR][1000 genomes]
rs2459920	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2678684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2781367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3093873	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35217486	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57336845	0.83[AMR][1000 genomes];0.89[ASN][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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
2	chr14:20812000-20822600	Weak transcription	Gastric	stomach
3	chr14:20812200-20815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
6	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
7	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
8	chr14:20812400-20815800	Weak transcription	Small Intestine	intestine
9	chr14:20812400-20816000	Weak transcription	Thymus	Thymus
10	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
13	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:20812600-20816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:20812600-20816000	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:20812600-20816600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:20812600-20817000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:20812600-20817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:20812600-20817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:20812600-20817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:20812600-20817600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:20812600-20817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:20812600-20817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:20812600-20817800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:20812600-20818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
27	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
29	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
30	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
31	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
33	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:20812800-20820600	Weak transcription	NHLF	lung
39	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:20813200-20816400	Strong transcription	HSMMtube	muscle
45	chr14:20813200-20816400	Strong transcription	K562	blood
46	chr14:20813200-20816800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:20813200-20817000	Strong transcription	Fetal Lung	lung
48	chr14:20813200-20819800	Strong transcription	Fetal Kidney	kidney
49	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
50	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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