Variant report

Variant	rs8010392
Chromosome Location	chr14:20816032-20816033
allele	C/T
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	SP1	chr14:20815954-20816315	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:20816005-20816362	HepG2	liver:	n/a	n/a
3	TEAD4	chr14:20815921-20816366	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:20815809-20816394	HepG2	liver:	n/a	n/a
5	RXRA	chr14:20815935-20816248	HepG2	liver:	n/a	n/a
6	MYBL2	chr14:20815747-20816419	HepG2	liver:	n/a	n/a
7	FOSL2	chr14:20815905-20816250	HepG2	liver:	n/a	n/a
8	JUND	chr14:20815928-20816248	HepG2	liver:	n/a	n/a
9	HNF4A	chr14:20815927-20816238	HepG2	liver:	n/a	n/a
10	FOXA1	chr14:20815957-20816308	HepG2	liver:	n/a	n/a
11	JUN	chr14:20815987-20816245	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPPH1	TF binding region
ENSG00000254846	TF binding region
PARP2	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093878	0.88[EUR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.80[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[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	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
5	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
6	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
7	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
10	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:20812600-20816600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:20812600-20817000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:20812600-20817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:20812600-20817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:20812600-20817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:20812600-20817600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:20812600-20817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr14:20812600-20817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:20812600-20817800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:20812600-20818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
22	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
24	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
25	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
26	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
28	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:20812800-20820600	Weak transcription	NHLF	lung
34	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:20813200-20816400	Strong transcription	HSMMtube	muscle
40	chr14:20813200-20816400	Strong transcription	K562	blood
41	chr14:20813200-20816800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:20813200-20817000	Strong transcription	Fetal Lung	lung
43	chr14:20813200-20819800	Strong transcription	Fetal Kidney	kidney
44	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
45	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
50	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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