Variant report

Variant	esv3352094
Chromosome Location	chr20:25754352-25760150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 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	CTCF	chr20:25758100-25758250	A549	lung:	n/a	n/a
3	FOSL2	chr20:25756613-25756956	HepG2	liver:	n/a	n/a
4	JUND	chr20:25757845-25757960	HepG2	liver:	n/a	chr20:25757884-25757896
5	PAX5	chr20:25756710-25756860	GM12878	blood:	n/a	n/a
6	POLR2A	chr20:25755150-25755196	Gliobla	brain:	n/a	n/a
7	POLR2A	chr20:25755465-25755547	Gliobla	brain:	n/a	n/a
8	USF1	chr20:25756864-25756983	HepG2	liver:	n/a	n/a
9	ZBTB33	chr20:25757850-25757978	HepG2	liver:	n/a	n/a
10	ZBTB33	chr20:25756711-25756888	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25755634-25755684	PrEC	prostate:	n/a
2	chr20:25755634-25755684	GM12878	blood:	n/a
3	chr20:25755634-25755684	BE2_C	brain:	n/a
4	chr20:25755634-25755684	Hepatocyte	liver:	n/a
5	chr20:25755634-25755684	PFSK-1	brain:	n/a
6	chr20:25755634-25755684	RPTEC	kidney:	n/a
7	chr20:25755634-25755684	HEEpiC	esophagus:	n/a
8	chr20:25755634-25755684	AG04449	skin:	fetal
9	chr20:25755634-25755684	NHBE	bronchial:	n/a
10	chr20:25755634-25755684	NH-A	brain:	n/a
11	chr20:25755634-25755684	HPAEpiC	pulmonary alveolar:	n/a
12	chr20:25755634-25755684	AG04450	lung:	fetal
13	chr20:25755634-25755684	HNPCEpiC	eye:	n/a
14	chr20:25755634-25755684	HL-60	blood:	n/a
15	chr20:25755634-25755684	IMR90	lung:	fetal
16	chr20:25755634-25755684	Hela-S3	cervix:	n/a
17	chr20:25755634-25755684	Caco-2	colon:	n/a
18	chr20:25755634-25755684	H1-hESC	embryonic stem cell:	embryo
19	chr20:25755634-25755684	GM19239	blood:	n/a
20	chr20:25755634-25755684	HepG2	liver:	n/a
21	chr20:25755634-25755684	ProgFib	skin:	n/a
22	chr20:25755634-25755684	K562	blood:	n/a
23	chr20:25755634-25755684	SKMC	muscle:	n/a
24	chr20:25755634-25755684	A549	lung:	n/a
25	chr20:25755634-25755684	SK-N-SH_RA	brain:	n/a
26	chr20:25755634-25755684	T-47D	breast:	n/a
27	chr20:25755634-25755684	HCPEpiC	choroid plexus:	n/a
28	chr20:25755634-25755684	BJ	skin:	n/a
29	chr20:25755634-25755684	AG09309	skin:	n/a
30	chr20:25755634-25755684	HAEpiC	amniotic membrane:	n/a
31	chr20:25755634-25755684	NB4	blood:	n/a
32	chr20:25755634-25755684	SK-N-MC	brain:	n/a
33	chr20:25755634-25755684	NT2-D1	testis:	n/a
34	chr20:25755634-25755684	PANC-1	pancreas:	n/a
35	chr20:25755634-25755684	CMK	blood:	n/a
36	chr20:25755634-25755684	AG10803	skin:	n/a
37	chr20:25755634-25755684	HRE	kidney:	n/a
38	chr20:25755634-25755684	HCM	heart:	n/a
39	chr20:25755634-25755684	GM06990	blood:	n/a
40	chr20:25755634-25755684	HRCEpiC	kidney:	n/a
41	chr20:25755634-25755684	HCF	heart:	n/a
42	chr20:25755634-25755684	HRPEpiC	eye:	n/a
43	chr20:25755634-25755684	HMEC	breast:	n/a
44	chr20:25755634-25755684	AoSMC	blood vessel:	n/a
45	chr20:25755634-25755684	HUVEC	blood vessel:	n/a
46	chr20:25755634-25755684	NHDF-neo	bronchial:	n/a
47	chr20:25755634-25755684	U87	brain:	n/a
48	chr20:25755634-25755684	ovcar-3	ovarian:	n/a
49	chr20:25755634-25755684	SAEC	small airway:	n/a
50	chr20:25755634-25755684	HIPEpiC	eye:	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: 163 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201966265	chr20:25754384-25754385	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs2466354	chr20:25754404-25754405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs201981918	chr20:25754408-25754409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143313850	chr20:25754438-25754439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200044521	chr20:25754459-25754460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548247259	chr20:25754479-25754480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201133036	chr20:25754496-25754497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs202242013	chr20:25754505-25754506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs200609350	chr20:25754507-25754508	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201513849	chr20:25754528-25754529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113900656	chr20:25754536-25754537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185399374	chr20:25754538-25754539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs199701272	chr20:25754551-25754552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs568241833	chr20:25754554-25754555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs2798572	chr20:25754557-25754558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs577636584	chr20:25754574-25754575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374695226	chr20:25754576-25754577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs34339572	chr20:25754577-25754578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs55948032	chr20:25754600-25754601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs59280837	chr20:25754603-25754604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs367829578	chr20:25754604-25754605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115482967	chr20:25754607-25754608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs367779882	chr20:25754620-25754621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs371611338	chr20:25754622-25754623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs371725665	chr20:25754637-25754638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs371257504	chr20:25754638-25754639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs141101964	chr20:25754642-25754643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2466355	chr20:25754643-25754644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs112403239	chr20:25754645-25754646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs74649712	chr20:25754648-25754649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs533721327	chr20:25754650-25754651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs73347169	chr20:25754670-25754671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs79458516	chr20:25754689-25754690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547226916	chr20:25754694-25754695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs371722658	chr20:25754723-25754724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs76339741	chr20:25754756-25754757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368502231	chr20:25754782-25754783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs372984581	chr20:25755011-25755012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73347177	chr20:25755019-25755020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141571721	chr20:25755034-25755035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114984930	chr20:25755047-25755048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs41310144	chr20:25755058-25755059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs41309841	chr20:25755073-25755074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112942207	chr20:25755082-25755083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs199501070	chr20:25755086-25755087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143237554	chr20:25755095-25755096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377174711	chr20:25755114-25755115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113139573	chr20:25755129-25755130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs41306779	chr20:25755132-25755133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs370831766	chr20:25755152-25755153	ZNF genes & repeats	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:3 , 50 per page) page: 1

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

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