Variant report

Variant	esv18089
Chromosome Location	chr20:26036258-26081499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr20:26041793-26041988	GM12878	blood:	n/a	n/a
2	CEBPB	chr20:26075797-26075840	HepG2	liver:	n/a	chr20:26075803-26075816 chr20:26075804-26075815
3	CEBPB	chr20:26041786-26041946	K562	blood:	n/a	n/a
4	CTCF	chr20:26079620-26079770	GM12869	blood:	n/a	n/a
5	CTCF	chr20:26054800-26054950	Caco-2	colon:	n/a	n/a
6	CTCF	chr20:26041346-26041380	GM13976	blood:	n/a	n/a
7	CTCF	chr20:26054740-26054890	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr20:26045269-26045273	LNCaP	prostate:	n/a	n/a
9	CTCF	chr20:26040012-26040263	K562	blood:	n/a	n/a
10	CTCF	chr20:26048294-26048345	GM13976	blood:	n/a	n/a
11	CTCF	chr20:26042994-26043053	GM10248	blood:	n/a	chr20:26043006-26043019
12	CTCF	chr20:26040159-26040181	K562	blood:	n/a	n/a
13	CTCF	chr20:26045593-26045679	LNCaP	prostate:	n/a	chr20:26045642-26045650
14	CTCF	chr20:26039870-26040409	K562	blood:	n/a	n/a
15	CTCF	chr20:26045218-26045235	LNCaP	prostate:	n/a	n/a
16	EBF1	chr20:26039481-26039663	GM12878	blood:	n/a	n/a
17	EBF1	chr20:26068803-26069015	GM12878	blood:	n/a	n/a
18	EBF1	chr20:26068782-26069003	GM12878	blood:	n/a	n/a
19	EP300	chr20:26041722-26042052	GM12878	blood:	n/a	n/a
20	EP300	chr20:26080112-26080441	GM12878	blood:	n/a	n/a
21	EP300	chr20:26051583-26051901	GM12878	blood:	n/a	n/a
22	EP300	chr20:26066269-26066547	GM12878	blood:	n/a	n/a
23	EP300	chr20:26041768-26041935	GM12878	blood:	n/a	n/a
24	EP300	chr20:26064263-26064509	GM12878	blood:	n/a	n/a
25	FOSL2	chr20:26053694-26053912	HepG2	liver:	n/a	n/a
26	FOSL2	chr20:26070394-26070634	HepG2	liver:	n/a	chr20:26070610-26070620 chr20:26070611-26070619
27	FOSL2	chr20:26050765-26051452	HepG2	liver:	n/a	n/a
28	FOSL2	chr20:26043665-26043985	HepG2	liver:	n/a	n/a
29	FOSL2	chr20:26072242-26072489	HepG2	liver:	n/a	n/a
30	FOSL2	chr20:26051529-26052134	HepG2	liver:	n/a	n/a
31	FOSL2	chr20:26078641-26078874	HepG2	liver:	n/a	n/a
32	FOSL2	chr20:26062023-26062296	HepG2	liver:	n/a	chr20:26062181-26062192
33	FOSL2	chr20:26053355-26053574	HepG2	liver:	n/a	n/a
34	FOSL2	chr20:26049701-26050038	HepG2	liver:	n/a	n/a
35	FOSL2	chr20:26051850-26052284	HepG2	liver:	n/a	n/a
36	FOSL2	chr20:26039478-26040161	HepG2	liver:	n/a	n/a
37	FOSL2	chr20:26040314-26040777	HepG2	liver:	n/a	n/a
38	FOSL2	chr20:26069889-26070156	HepG2	liver:	n/a	n/a
39	FOSL2	chr20:26059035-26059280	HepG2	liver:	n/a	chr20:26059264-26059276
40	FOSL2	chr20:26053268-26053980	HepG2	liver:	n/a	chr20:26053272-26053279
41	FOSL2	chr20:26064776-26065022	HepG2	liver:	n/a	n/a
42	FOSL2	chr20:26064243-26064541	HepG2	liver:	n/a	n/a
43	FOSL2	chr20:26066021-26066761	HepG2	liver:	n/a	n/a
44	FOSL2	chr20:26067460-26067898	HepG2	liver:	n/a	n/a
45	FOSL2	chr20:26066838-26067133	HepG2	liver:	n/a	n/a
46	FOSL2	chr20:26048294-26048686	HepG2	liver:	n/a	n/a
47	FOSL2	chr20:26044332-26044569	HepG2	liver:	n/a	n/a
48	FOSL2	chr20:26068719-26068969	HepG2	liver:	n/a	n/a
49	FOSL2	chr20:26066104-26066564	HepG2	liver:	n/a	n/a
50	FOSL2	chr20:26065344-26065905	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:26062310-26062360	SKMC	muscle:	n/a
2	chr20:26062310-26062360	Hepatocyte	liver:	n/a
3	chr20:26062310-26062360	HAEpiC	amniotic membrane:	n/a
4	chr20:26062310-26062360	A549	lung:	n/a
5	chr20:26062310-26062360	HCM	heart:	n/a
6	chr20:26062310-26062360	Hela-S3	cervix:	n/a
7	chr20:26062310-26062360	IMR90	lung:	fetal
8	chr20:26062310-26062360	HCPEpiC	choroid plexus:	n/a
9	chr20:26062310-26062360	AG04449	skin:	fetal
10	chr20:26062310-26062360	U87	brain:	n/a
11	chr20:26062310-26062360	GM12878	blood:	n/a
12	chr20:26062310-26062360	ECC-1	luminal epithelium:	n/a
13	chr20:26062310-26062360	ovcar-3	ovarian:	n/a
14	chr20:26062310-26062360	AG09319	gingival:	n/a
15	chr20:26062310-26062360	HepG2	liver:	n/a
16	chr20:26062310-26062360	HMEC	breast:	n/a
17	chr20:26062310-26062360	HNPCEpiC	eye:	n/a
18	chr20:26062310-26062360	AG09309	skin:	n/a
19	chr20:26062310-26062360	PANC-1	pancreas:	n/a
20	chr20:26062310-26062360	HPAEpiC	pulmonary alveolar:	n/a
21	chr20:26062310-26062360	HL-60	blood:	n/a
22	chr20:26062310-26062360	CMK	blood:	n/a
23	chr20:26062310-26062360	HEK293	kidney:	embryo
24	chr20:26062310-26062360	T-47D	breast:	n/a
25	chr20:26062310-26062360	SAEC	small airway:	n/a
26	chr20:26062310-26062360	LNCaP	prostate:	n/a
27	chr20:26062310-26062360	NB4	blood:	n/a
28	chr20:26062310-26062360	H1-hESC	embryonic stem cell:	embryo
29	chr20:26062310-26062360	GM12891	blood:	n/a
30	chr20:26062310-26062360	HUVEC	blood vessel:	n/a
31	chr20:26062310-26062360	BJ	skin:	n/a
32	chr20:26062310-26062360	NHDF-neo	bronchial:	n/a
33	chr20:26062310-26062360	BE2_C	brain:	n/a
34	chr20:26062310-26062360	GM12892	blood:	n/a
35	chr20:26062310-26062360	AG10803	skin:	n/a
36	chr20:26062310-26062360	AG04450	lung:	fetal
37	chr20:26062310-26062360	MCF-7	breast:	n/a
38	chr20:26062310-26062360	HCT-116	colon:	n/a
39	chr20:26062310-26062360	HIPEpiC	eye:	n/a
40	chr20:26062310-26062360	HEEpiC	esophagus:	n/a
41	chr20:26062310-26062360	K562	blood:	n/a
42	chr20:26062310-26062360	Jurkat	blood:	n/a
43	chr20:26062310-26062360	HRE	kidney:	n/a
44	chr20:26062310-26062360	NHBE	bronchial:	n/a
45	chr20:26062310-26062360	SK-N-MC	brain:	n/a
46	chr20:26062310-26062360	Caco-2	colon:	n/a
47	chr20:26062310-26062360	NH-A	brain:	n/a
48	chr20:26062310-26062360	HRPEpiC	eye:	n/a
49	chr20:26062310-26062360	PFSK-1	brain:	n/a
50	chr20:26062310-26062360	SK-N-SH_RA	brain:	n/a

No data

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182A-4	chr20:26049573-26049840	ENSG00000125804.9
2	lnc-FAM182A-4	chr20:26049724-26049840	ENSG00000125804.9
3	lnc-FAM182A-4	chr20:26054406-26054495	ENSG00000125804.9
4	lnc-FAM182A-4	chr20:26073445-26073683	ENSG00000125804.9
5	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
6	lnc-FAM182A-4	chr20:26056970-26057076	ENSG00000125804.9
7	lnc-FAM182A-4	chr20:26047198-26047273	ENSG00000125804.9
8	lnc-FAM182A-4	chr20:26049553-26049840	ENSG00000125804.9
9	lnc-FAM182A-4	chr20:26063530-26063584	ENSG00000125804.9
10	lnc-FAM182A-4	chr20:26054406-26054448	ENSG00000125804.9
11	lnc-FAM182A-4	chr20:26049553-26049796	ENSG00000125804.9
12	lnc-FAM182A-4	chr20:26040299-26040496	ENSG00000125804.9
13	lnc-FAM182A-4	chr20:26046283-26046420	ENSG00000125804.9
14	lnc-FAM182A-4	chr20:26049675-26049840	ENSG00000125804.9
15	lnc-FAM182A-4	chr20:26038034-26038238	ENSG00000125804.9
16	lnc-FAM182A-4	chr20:26072148-26072255	ENSG00000125804.9
17	lnc-FAM182A-4	chr20:26061824-26062026	ENSG00000125804.9
18	lnc-FAM182A-4	chr20:26047620-26047810	ENSG00000125804.9
19	lnc-FAM182A-4	chr20:26054406-26054505	ENSG00000125804.9

No data

Variant related genes	Relation type
FAM182A	TF binding region
FAM182A	CpG island

Extended variants
information (count: 302 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201793237	chr20:26036575-26036576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs6115497	chr20:26037842-26037843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111400661	chr20:26038108-26038109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191095384	chr20:26039438-26039439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201191709	chr20:26039580-26039581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367556870	chr20:26041853-26041854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370277328	chr20:26041856-26041857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113989380	chr20:26041944-26041945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6115498	chr20:26042202-26042203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147875992	chr20:26042844-26042845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537130493	chr20:26042902-26042903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556824376	chr20:26042952-26042953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs199926384	chr20:26042966-26042967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201015349	chr20:26043022-26043023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570260213	chr20:26043036-26043037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367651745	chr20:26043053-26043054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375086666	chr20:26043143-26043144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369908742	chr20:26043176-26043177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201822848	chr20:26043646-26043647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4637198	chr20:26043802-26043803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200256541	chr20:26044048-26044049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201406223	chr20:26044049-26044050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs58856345	chr20:26044679-26044680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374562490	chr20:26045595-26045596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111722870	chr20:26045608-26045609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555745476	chr20:26045614-26045615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs202114290	chr20:26045632-26045633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111748683	chr20:26045759-26045760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs6084053	chr20:26045786-26045787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200635903	chr20:26046379-26046380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201507745	chr20:26046380-26046381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs199646934	chr20:26046385-26046386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs182129621	chr20:26046390-26046391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs186449509	chr20:26046416-26046417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs199990892	chr20:26047634-26047635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200762590	chr20:26047653-26047654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368469111	chr20:26049048-26049049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542909789	chr20:26054418-26054419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs111555265	chr20:26054422-26054423	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113568451	chr20:26054459-26054460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367876612	chr20:26054484-26054485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs200395067	chr20:26054604-26054605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528104864	chr20:26054623-26054624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551430868	chr20:26054634-26054635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112493849	chr20:26054643-26054644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112241679	chr20:26054652-26054653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111598620	chr20:26054655-26054656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112584633	chr20:26054659-26054660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112896866	chr20:26054673-26054674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564852654	chr20:26054679-26054680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26054600-26055000	ZNF genes & repeats	Brain Angular Gyrus	brain
2	chr20:26054600-26055000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:26054600-26055000	ZNF genes & repeats	Esophagus	oesophagus
4	chr20:26054600-26055000	ZNF genes & repeats	Fetal Brain Male	brain
5	chr20:26054600-26055000	ZNF genes & repeats	Fetal Kidney	kidney
6	chr20:26054600-26055000	ZNF genes & repeats	Fetal Lung	lung
7	chr20:26054600-26055000	ZNF genes & repeats	Pancreas	Pancrea
8	chr20:26054600-26055000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
9	chr20:26054800-26055000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr20:26054800-26055000	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr20:26054800-26055000	Active TSS	Brain Substantia Nigra	brain
12	chr20:26054800-26055000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
13	chr20:26078800-26080200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr20:26079600-26079800	ZNF genes & repeats	Gastric	stomach

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