Variant report

Variant	esv10848
Chromosome Location	chr20:22542235-22543685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:22542666-22542964	K562	blood:	n/a	n/a
2	CCNT2	chr20:22542647-22542997	K562	blood:	n/a	n/a
3	CHD2	chr20:22542445-22542455	HepG2	liver:	n/a	n/a
4	CHD2	chr20:22542983-22543027	HepG2	liver:	n/a	n/a
5	EP300	chr20:22543641-22544246	HepG2	liver:	n/a	n/a
6	EP300	chr20:22542630-22542944	K562	blood:	n/a	n/a
7	FOSL2	chr20:22542321-22543599	HepG2	liver:	n/a	n/a
8	FOXA1	chr20:22543664-22544235	HepG2	liver:	n/a	n/a
9	FOXA1	chr20:22543666-22544272	HepG2	liver:	n/a	n/a
10	GATA1	chr20:22542346-22543120	K562	blood:	n/a	n/a
11	MBD4	chr20:22543455-22545081	HepG2	liver:	n/a	n/a
12	MBD4	chr20:22542374-22543496	HepG2	liver:	n/a	n/a
13	MYBL2	chr20:22543636-22544434	HepG2	liver:	n/a	n/a
14	MYBL2	chr20:22543574-22544392	HepG2	liver:	n/a	n/a
15	NFIC	chr20:22543669-22544483	HepG2	liver:	n/a	n/a
16	POLR2A	chr20:22542551-22545334	HepG2	liver:	n/a	n/a
17	POLR2A	chr20:22542974-22543173	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr20:22542648-22543552	HepG2	liver:	n/a	n/a
19	POLR2A	chr20:22543143-22543376	HepG2	liver:	n/a	n/a
20	POLR2A	chr20:22539124-22546431	HepG2	liver:	n/a	n/a
21	POLR2A	chr20:22539677-22547334	HepG2	liver:	n/a	n/a
22	POLR2A	chr20:22542721-22543018	HepG2	liver:	n/a	n/a
23	POLR2A	chr20:22542310-22542335	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr20:22542579-22543070	HepG2	liver:	n/a	n/a
25	RCOR1	chr20:22542526-22542959	K562	blood:	n/a	n/a
26	SP1	chr20:22543633-22544214	HepG2	liver:	n/a	n/a
27	TAL1	chr20:22542635-22542967	K562	blood:	n/a	n/a
28	TEAD4	chr20:22542603-22542955	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-2	chr20:22541216-22545754	NONHSAT078994
2	lnc-FOXA2-2	chr20:22541194-22545754	XLOC_013684
3	lnc-FOXA2-2	chr20:22540989-22545754	NONHSAT078989
4	lnc-FOXA2-2	chr20:22542193-22543929	NONHSAT078993
5	lnc-FOXA2-2	chr20:22541191-22545754	ENSG00000225074
6	lnc-FOXA2-2	chr20:22541191-22543929	XLOC_013684
7	lnc-FOXA2-2	chr20:22541192-22545754	NR_001558

No data

Variant related genes	Relation type
LINC00261	TF binding region
KDSR	miRNA target sites
PTRF	miRNA target sites

Extended variants
information (count: 85 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192197719	chr20:22542241-22542242	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs554682676	chr20:22542256-22542257	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs184520466	chr20:22542277-22542278	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs540672851	chr20:22542278-22542279	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs560292934	chr20:22542282-22542283	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs74520982	chr20:22542283-22542284	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs546203890	chr20:22542344-22542345	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs79457352	chr20:22542399-22542400	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs577212101	chr20:22542410-22542411	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs189274619	chr20:22542428-22542429	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs531978915	chr20:22542450-22542451	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs548792888	chr20:22542479-22542480	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs34023925	chr20:22542495-22542496	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs529756524	chr20:22542501-22542502	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs6075925	chr20:22542507-22542508	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs1203881	chr20:22542521-22542522	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566366364	chr20:22542525-22542526	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs530155944	chr20:22542530-22542531	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs538606540	chr20:22542539-22542540	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs73902902	chr20:22542546-22542547	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182075392	chr20:22542547-22542548	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs11472401	chr20:22542552-22542553	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs35829207	chr20:22542557-22542558	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs1044293	chr20:22542559-22542560	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs35832268	chr20:22542564-22542565	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs200388439	chr20:22542567-22542568	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs150055440	chr20:22542568-22542569	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs6048194	chr20:22542571-22542572	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs374506824	chr20:22542591-22542592	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs149094651	chr20:22542603-22542604	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs56381440	chr20:22542610-22542611	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs537692792	chr20:22542640-22542641	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs554343561	chr20:22542648-22542649	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs574249104	chr20:22542652-22542653	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs79317425	chr20:22542657-22542658	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs558609944	chr20:22542684-22542685	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs112929726	chr20:22542692-22542693	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs540389183	chr20:22542706-22542707	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs554213234	chr20:22542709-22542710	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs576876852	chr20:22542710-22542711	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs148247735	chr20:22542711-22542712	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs546165373	chr20:22542718-22542719	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs184489307	chr20:22542722-22542723	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs116946411	chr20:22542761-22542762	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs141310852	chr20:22542854-22542855	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs375254521	chr20:22542862-22542863	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs189195321	chr20:22542871-22542872	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs542495413	chr20:22542901-22542902	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs145583152	chr20:22542956-22542957	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs138151934	chr20:22542961-22542962	Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22515000-22544200	Weak transcription	Pancreas	Pancrea
2	chr20:22536200-22544800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr20:22536800-22545200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr20:22537200-22542400	Weak transcription	K562	blood
5	chr20:22537600-22543800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr20:22539200-22542400	Weak transcription	HepG2	liver
7	chr20:22539400-22545200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:22540000-22548800	Weak transcription	Gastric	stomach
9	chr20:22541200-22545000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr20:22541400-22544200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr20:22541400-22545200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:22541600-22542400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr20:22542200-22542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:22542400-22543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:22542400-22543200	Enhancers	K562	blood
16	chr20:22542400-22544200	Enhancers	HepG2	liver
17	chr20:22542600-22542800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
18	chr20:22542600-22542800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr20:22542600-22543000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:22542800-22543000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:22542800-22543000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr20:22542800-22543800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
23	chr20:22542800-22544400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr20:22542800-22544600	Enhancers	Liver	Liver
25	chr20:22542800-22544800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr20:22542800-22545000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr20:22543000-22543800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:22543200-22543400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr20:22543200-22544400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr20:22543200-22548000	Weak transcription	K562	blood
31	chr20:22543400-22543800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr20:22543400-22545200	Enhancers	Stomach Mucosa	stomach
33	chr20:22543600-22547800	Weak transcription	Rectal Mucosa Donor 31	rectum

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