Variant report

Variant	esv13180
Chromosome Location	chr20:25743091-25757040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr20:25756665-25756856	GM12878	blood:	n/a	n/a
2	EBF1	chr20:25748749-25748970	GM12878	blood:	n/a	n/a
3	FOSL2	chr20:25753318-25753554	HepG2	liver:	n/a	n/a
4	FOSL2	chr20:25750532-25750914	HepG2	liver:	n/a	n/a
5	FOSL2	chr20:25751853-25752408	HepG2	liver:	n/a	n/a
6	FOSL2	chr20:25750991-25751641	HepG2	liver:	n/a	n/a
7	FOSL2	chr20:25749854-25750292	HepG2	liver:	n/a	n/a
8	FOSL2	chr20:25751188-25751648	HepG2	liver:	n/a	n/a
9	FOSL2	chr20:25746786-25747003	HepG2	liver:	n/a	n/a
10	FOSL2	chr20:25745239-25745473	HepG2	liver:	n/a	n/a
11	FOSL2	chr20:25752730-25752976	HepG2	liver:	n/a	n/a
12	FOSL2	chr20:25747596-25747863	HepG2	liver:	n/a	n/a
13	FOSL2	chr20:25756613-25756956	HepG2	liver:	n/a	n/a
14	JUND	chr20:25751249-25751602	HepG2	liver:	n/a	n/a
15	JUND	chr20:25750053-25750292	HepG2	liver:	n/a	n/a
16	JUND	chr20:25751031-25751230	HepG2	liver:	n/a	n/a
17	JUND	chr20:25745960-25746192	HepG2	liver:	n/a	n/a
18	JUND	chr20:25746505-25746676	HepG2	liver:	n/a	n/a
19	JUND	chr20:25750049-25750176	HepG2	liver:	n/a	n/a
20	JUND	chr20:25747018-25747144	HepG2	liver:	n/a	n/a
21	MYC	chr20:25753947-25753978	H1-hESC	embryonic stem cell:	n/a	n/a
22	PAX5	chr20:25751361-25751570	GM12878	blood:	n/a	n/a
23	PAX5	chr20:25743645-25743840	GM12878	blood:	n/a	n/a
24	PAX5	chr20:25751229-25751811	GM12878	blood:	n/a	n/a
25	PAX5	chr20:25756710-25756860	GM12878	blood:	n/a	n/a
26	POLR2A	chr20:25755150-25755196	Gliobla	brain:	n/a	n/a
27	POLR2A	chr20:25755465-25755547	Gliobla	brain:	n/a	n/a
28	POU2F2	chr20:25753352-25753714	GM12878	blood:	n/a	n/a
29	POU2F2	chr20:25751006-25751365	GM12878	blood:	n/a	n/a
30	POU2F2	chr20:25751452-25751881	GM12878	blood:	n/a	n/a
31	POU2F2	chr20:25752336-25752646	GM12878	blood:	n/a	n/a
32	RXRA	chr20:25750608-25751481	HepG2	liver:	n/a	chr20:25751317-25751336
33	RXRA	chr20:25745715-25746250	HepG2	liver:	n/a	n/a
34	RXRA	chr20:25752905-25753938	HepG2	liver:	n/a	chr20:25753321-25753341
35	SIN3AK20	chr20:25751409-25751530	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr20:25753392-25753514	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr20:25746014-25746147	HepG2	liver:	n/a	n/a
38	TCF3	chr20:25751458-25751873	GM12878	blood:	n/a	n/a
39	USF1	chr20:25748218-25748432	HepG2	liver:	n/a	n/a
40	USF1	chr20:25750065-25750200	HepG2	liver:	n/a	n/a
41	USF1	chr20:25756864-25756983	HepG2	liver:	n/a	n/a
42	USF1	chr20:25751329-25751550	HepG2	liver:	n/a	n/a
43	USF1	chr20:25751062-25751305	HepG2	liver:	n/a	n/a
44	USF1	chr20:25752817-25752971	HepG2	liver:	n/a	n/a
45	ZBTB33	chr20:25751570-25751793	HepG2	liver:	n/a	n/a
46	ZBTB33	chr20:25751137-25751563	GM12878	blood:	n/a	n/a
47	ZBTB33	chr20:25752127-25752428	GM12878	blood:	n/a	n/a
48	ZBTB33	chr20:25756711-25756888	HepG2	liver:	n/a	n/a
49	ZBTB33	chr20:25751344-25751688	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25755634-25755684	NHBE	bronchial:	n/a
2	chr20:25755634-25755684	AG09319	gingival:	n/a
3	chr20:25755634-25755684	HEK293	kidney:	embryo
4	chr20:25755634-25755684	PFSK-1	brain:	n/a
5	chr20:25755634-25755684	RPTEC	kidney:	n/a
6	chr20:25755634-25755684	T-47D	breast:	n/a
7	chr20:25755634-25755684	ovcar-3	ovarian:	n/a
8	chr20:25755634-25755684	HCM	heart:	n/a
9	chr20:25755634-25755684	AoSMC	blood vessel:	n/a
10	chr20:25755634-25755684	SK-N-SH	brain:	n/a
11	chr20:25755634-25755684	HUVEC	blood vessel:	n/a
12	chr20:25755634-25755684	HepG2	liver:	n/a
13	chr20:25755634-25755684	CMK	blood:	n/a
14	chr20:25755634-25755684	HRE	kidney:	n/a
15	chr20:25755634-25755684	MCF-7	breast:	n/a
16	chr20:25755634-25755684	HRPEpiC	eye:	n/a
17	chr20:25755634-25755684	HCT-116	colon:	n/a
18	chr20:25755634-25755684	HPAEpiC	pulmonary alveolar:	n/a
19	chr20:25755634-25755684	SK-N-SH_RA	brain:	n/a
20	chr20:25755634-25755684	GM06990	blood:	n/a
21	chr20:25755634-25755684	PANC-1	pancreas:	n/a
22	chr20:25755634-25755684	BJ	skin:	n/a
23	chr20:25755634-25755684	HL-60	blood:	n/a
24	chr20:25755634-25755684	IMR90	lung:	fetal
25	chr20:25755634-25755684	GM19239	blood:	n/a
26	chr20:25755634-25755684	AG09309	skin:	n/a
27	chr20:25755634-25755684	HIPEpiC	eye:	n/a
28	chr20:25755634-25755684	HMEC	breast:	n/a
29	chr20:25755634-25755684	GM12891	blood:	n/a
30	chr20:25755634-25755684	NT2-D1	testis:	n/a
31	chr20:25755634-25755684	AG10803	skin:	n/a
32	chr20:25755634-25755684	ProgFib	skin:	n/a
33	chr20:25755634-25755684	LNCaP	prostate:	n/a
34	chr20:25755634-25755684	NHDF-neo	bronchial:	n/a
35	chr20:25755634-25755684	AG04449	skin:	fetal
36	chr20:25755634-25755684	GM12892	blood:	n/a
37	chr20:25755634-25755684	HEEpiC	esophagus:	n/a
38	chr20:25755634-25755684	NH-A	brain:	n/a
39	chr20:25755634-25755684	MCF10A-Er-Src	breast:	n/a
40	chr20:25755634-25755684	PrEC	prostate:	n/a
41	chr20:25755634-25755684	H1-hESC	embryonic stem cell:	embryo
42	chr20:25755634-25755684	AG04450	lung:	fetal
43	chr20:25755634-25755684	GM12878	blood:	n/a
44	chr20:25755634-25755684	NB4	blood:	n/a
45	chr20:25755634-25755684	SK-N-MC	brain:	n/a
46	chr20:25755634-25755684	Caco-2	colon:	n/a
47	chr20:25755634-25755684	SAEC	small airway:	n/a
48	chr20:25755634-25755684	HCF	heart:	n/a
49	chr20:25755634-25755684	HCPEpiC	choroid plexus:	n/a
50	chr20:25755634-25755684	Jurkat	blood:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-8	chr20:25755746-25755908	NONHSAT147160
2	lnc-FAM182B-8	chr20:25755746-25755948	NONHSAT079187
3	lnc-FAM182B-8	chr20:25750234-25754795	NONHSAT079187
4	lnc-FAM182B-8	chr20:25754652-25754795	NONHSAT147160

No data

Variant related genes	Relation type
FAM182B	TF binding region
FAM182B	CpG island

Extended variants
information (count: 417 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7274637	chr20:25743121-25743122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571251243	chr20:25743123-25743124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76449832	chr20:25743131-25743132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77858994	chr20:25743171-25743172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367823859	chr20:25743179-25743180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113781365	chr20:25743190-25743191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371303255	chr20:25743206-25743207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537101020	chr20:25743220-25743221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111284998	chr20:25743227-25743228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6132865	chr20:25743230-25743231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371983215	chr20:25743238-25743239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62213493	chr20:25743267-25743268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576544567	chr20:25743299-25743300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79882808	chr20:25743321-25743322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116186853	chr20:25743349-25743350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6050875	chr20:25743350-25743351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78284560	chr20:25743404-25743405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4597609	chr20:25743453-25743454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564094522	chr20:25743458-25743459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533184547	chr20:25743480-25743481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146764627	chr20:25743488-25743489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77315724	chr20:25743489-25743490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200681238	chr20:25743494-25743495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2798570	chr20:25743522-25743523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78875902	chr20:25743535-25743536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76377901	chr20:25743559-25743560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2798571	chr20:25743597-25743598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543866936	chr20:25743620-25743621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563654676	chr20:25743655-25743656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2258302	chr20:25743673-25743674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78104209	chr20:25743711-25743712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368996055	chr20:25743771-25743772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549234183	chr20:25743777-25743778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200949992	chr20:25743781-25743782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565972132	chr20:25743786-25743787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528441079	chr20:25743794-25743795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188250682	chr20:25743796-25743797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6115281	chr20:25743798-25743799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536662439	chr20:25743806-25743807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556987827	chr20:25743812-25743813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191799124	chr20:25743832-25743833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183857247	chr20:25743841-25743842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4447666	chr20:25743845-25743846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201165117	chr20:25743860-25743861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202145708	chr20:25743863-25743864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552819243	chr20:25743865-25743866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200440527	chr20:25743872-25743873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182078362	chr20:25743880-25743881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201582616	chr20:25743888-25743889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201997699	chr20:25743911-25743912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25742000-25744400	Weak transcription	Spleen	Spleen
2	chr20:25744400-25744600	Enhancers	Spleen	Spleen
3	chr20:25755000-25755600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:25755400-25755600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:25757000-25757400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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