Variant report

Variant	esv3429256
Chromosome Location	chr20:25735952-25770050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

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	BCL11A	chr20:25737731-25737913	GM12878	blood:	n/a	n/a
3	CEBPB	chr20:25741860-25742060	K562	blood:	n/a	chr20:25741983-25741994
4	CEBPB	chr20:25741990-25742017	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr20:25741823-25742042	HepG2	liver:	n/a	chr20:25741983-25741994
6	CEBPB	chr20:25736429-25736642	HepG2	liver:	n/a	chr20:25736503-25736514 chr20:25736533-25736544
7	CHD1	chr20:25741744-25742036	IMR90	lung:	n/a	n/a
8	CTCF	chr20:25741900-25742050	HFF	foreskin:	n/a	n/a
9	CTCF	chr20:25741700-25741850	GM12869	blood:	n/a	n/a
10	CTCF	chr20:25741760-25741910	GM12864	blood:	n/a	n/a
11	CTCF	chr20:25737920-25738070	WI-38	lung:	n/a	n/a
12	CTCF	chr20:25741840-25741990	WI-38	lung:	n/a	n/a
13	CTCF	chr20:25742480-25742630	MCF-7	breast:	n/a	n/a
14	CTCF	chr20:25758100-25758250	A549	lung:	n/a	n/a
15	CTCF	chr20:25741780-25741930	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr20:25740060-25740210	HepG2	liver:	n/a	n/a
17	CUX1	chr20:25741855-25742028	GM12878	blood:	n/a	n/a
18	EBF1	chr20:25748749-25748970	GM12878	blood:	n/a	n/a
19	EP300	chr20:25765241-25765559	GM12878	blood:	n/a	n/a
20	EP300	chr20:25740283-25740289	GM12878	blood:	n/a	n/a
21	FOSL2	chr20:25740561-25740886	HepG2	liver:	n/a	chr20:25740829-25740839
22	FOSL2	chr20:25750532-25750914	HepG2	liver:	n/a	n/a
23	FOSL2	chr20:25763230-25763655	HepG2	liver:	n/a	n/a
24	FOSL2	chr20:25752730-25752976	HepG2	liver:	n/a	n/a
25	FOSL2	chr20:25763400-25763874	HepG2	liver:	n/a	n/a
26	FOSL2	chr20:25753318-25753554	HepG2	liver:	n/a	n/a
27	FOSL2	chr20:25767104-25767441	HepG2	liver:	n/a	n/a
28	FOSL2	chr20:25751853-25752408	HepG2	liver:	n/a	n/a
29	FOSL2	chr20:25765556-25766377	HepG2	liver:	n/a	n/a
30	FOSL2	chr20:25768465-25768748	HepG2	liver:	n/a	n/a
31	FOSL2	chr20:25765649-25766105	HepG2	liver:	n/a	n/a
32	FOSL2	chr20:25745239-25745473	HepG2	liver:	n/a	n/a
33	FOSL2	chr20:25756613-25756956	HepG2	liver:	n/a	n/a
34	FOSL2	chr20:25750991-25751641	HepG2	liver:	n/a	n/a
35	FOSL2	chr20:25737379-25737938	HepG2	liver:	n/a	chr20:25737529-25737537
36	FOSL2	chr20:25764858-25765292	HepG2	liver:	n/a	n/a
37	FOSL2	chr20:25767462-25767853	HepG2	liver:	n/a	n/a
38	FOSL2	chr20:25764100-25764375	HepG2	liver:	n/a	n/a
39	FOSL2	chr20:25746786-25747003	HepG2	liver:	n/a	n/a
40	FOSL2	chr20:25747596-25747863	HepG2	liver:	n/a	n/a
41	FOSL2	chr20:25740155-25740531	HepG2	liver:	n/a	chr20:25740433-25740442
42	FOSL2	chr20:25749854-25750292	HepG2	liver:	n/a	n/a
43	FOSL2	chr20:25765008-25765570	HepG2	liver:	n/a	n/a
44	FOSL2	chr20:25751188-25751648	HepG2	liver:	n/a	n/a
45	FOXA1	chr20:25765361-25765729	HepG2	liver:	n/a	n/a
46	GABPA	chr20:25737166-25737291	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr20:25737126-25737347	Hela-S3	cervix:	n/a	n/a
48	IRF4	chr20:25762197-25762531	GM12878	blood:	n/a	n/a
49	IRF4	chr20:25737648-25737961	GM12878	blood:	n/a	n/a
50	JUND	chr20:25751031-25751230	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	AG04450	lung:	fetal
2	chr20:25755634-25755684	HRCEpiC	kidney:	n/a
3	chr20:25755634-25755684	AG04449	skin:	fetal
4	chr20:25755634-25755684	HNPCEpiC	eye:	n/a
5	chr20:25755634-25755684	MCF10A-Er-Src	breast:	n/a
6	chr20:25755634-25755684	HRPEpiC	eye:	n/a
7	chr20:25755634-25755684	HIPEpiC	eye:	n/a
8	chr20:25755634-25755684	ECC-1	luminal epithelium:	n/a
9	chr20:25755634-25755684	PrEC	prostate:	n/a
10	chr20:25755634-25755684	ProgFib	skin:	n/a
11	chr20:25755634-25755684	HPAEpiC	pulmonary alveolar:	n/a
12	chr20:25755634-25755684	PANC-1	pancreas:	n/a
13	chr20:25755634-25755684	PFSK-1	brain:	n/a
14	chr20:25755634-25755684	SK-N-MC	brain:	n/a
15	chr20:25755634-25755684	HEK293	kidney:	embryo
16	chr20:25755634-25755684	ovcar-3	ovarian:	n/a
17	chr20:25755634-25755684	HAEpiC	amniotic membrane:	n/a
18	chr20:25755634-25755684	Jurkat	blood:	n/a
19	chr20:25755634-25755684	Caco-2	colon:	n/a
20	chr20:25755634-25755684	GM12892	blood:	n/a
21	chr20:25755634-25755684	NB4	blood:	n/a
22	chr20:25755634-25755684	MCF-7	breast:	n/a
23	chr20:25755634-25755684	T-47D	breast:	n/a
24	chr20:25755634-25755684	HUVEC	blood vessel:	n/a
25	chr20:25755634-25755684	AG09309	skin:	n/a
26	chr20:25755634-25755684	A549	lung:	n/a
27	chr20:25755634-25755684	HRE	kidney:	n/a
28	chr20:25755634-25755684	SK-N-SH	brain:	n/a
29	chr20:25755634-25755684	AoSMC	blood vessel:	n/a
30	chr20:25755634-25755684	LNCaP	prostate:	n/a
31	chr20:25755634-25755684	BJ	skin:	n/a
32	chr20:25755634-25755684	SK-N-SH_RA	brain:	n/a
33	chr20:25755634-25755684	HL-60	blood:	n/a
34	chr20:25755634-25755684	GM12891	blood:	n/a
35	chr20:25755634-25755684	HCT-116	colon:	n/a
36	chr20:25755634-25755684	HMEC	breast:	n/a
37	chr20:25755634-25755684	NH-A	brain:	n/a
38	chr20:25755634-25755684	GM19239	blood:	n/a
39	chr20:25755634-25755684	AG10803	skin:	n/a
40	chr20:25755634-25755684	SKMC	muscle:	n/a
41	chr20:25755634-25755684	IMR90	lung:	fetal
42	chr20:25755634-25755684	K562	blood:	n/a
43	chr20:25755634-25755684	HepG2	liver:	n/a
44	chr20:25755634-25755684	Hepatocyte	liver:	n/a
45	chr20:25755634-25755684	HEEpiC	esophagus:	n/a
46	chr20:25755634-25755684	GM12878	blood:	n/a
47	chr20:25755634-25755684	NHDF-neo	bronchial:	n/a
48	chr20:25755634-25755684	SAEC	small airway:	n/a
49	chr20:25755634-25755684	CMK	blood:	n/a
50	chr20:25755634-25755684	HCPEpiC	choroid plexus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM182B-8	chr20:25755746-25755948	NONHSAT079187
2	lnc-FAM182B-8	chr20:25750234-25754795	NONHSAT079187
3	lnc-FAM182B-8	chr20:25755746-25755908	NONHSAT147160
4	lnc-FAM182B-8	chr20:25767381-25767624	NONHSAT079187
5	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: 1155 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564149995	chr20:25735958-25735959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202006823	chr20:25735966-25735967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200115258	chr20:25735969-25735970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113494338	chr20:25735971-25735972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112585810	chr20:25735978-25735979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369974019	chr20:25735997-25735998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75230620	chr20:25736002-25736003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73597867	chr20:25736007-25736008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76424048	chr20:25736020-25736021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373439415	chr20:25736031-25736032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138116737	chr20:25736034-25736035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372416002	chr20:25736039-25736040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77788398	chr20:25736054-25736055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73904664	chr20:25736056-25736057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74328461	chr20:25736060-25736061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373927611	chr20:25736095-25736096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143368358	chr20:25736098-25736099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546411073	chr20:25736117-25736118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62213480	chr20:25736130-25736131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62213481	chr20:25736178-25736179	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs78126010	chr20:25736187-25736188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563122174	chr20:25736192-25736193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6050870	chr20:25736213-25736214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548558029	chr20:25736217-25736218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375991193	chr20:25736218-25736219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79772904	chr20:25736219-25736220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568750560	chr20:25736220-25736221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527657313	chr20:25736237-25736238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547413766	chr20:25736245-25736246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150354650	chr20:25736253-25736254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117815761	chr20:25736254-25736255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78855300	chr20:25736266-25736267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570594569	chr20:25736285-25736286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199756471	chr20:25736294-25736295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371698105	chr20:25736295-25736296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201633523	chr20:25736301-25736302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6083939	chr20:25736306-25736307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73904665	chr20:25736308-25736309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371823879	chr20:25736314-25736315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73347110	chr20:25736320-25736321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556244635	chr20:25736351-25736352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142624035	chr20:25736353-25736354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569474985	chr20:25736377-25736378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202094922	chr20:25736408-25736409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367684466	chr20:25736420-25736421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375292266	chr20:25736427-25736428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535656385	chr20:25736432-25736433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77334657	chr20:25736455-25736456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555347545	chr20:25736458-25736459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572334713	chr20:25736459-25736460	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25732200-25736400	Weak transcription	Brain Angular Gyrus	brain
2	chr20:25732200-25737800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:25732400-25737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:25732600-25737800	Weak transcription	Thymus	Thymus
5	chr20:25737400-25737800	Weak transcription	Adipose Nuclei	Adipose
6	chr20:25737800-25738000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:25737800-25738000	Bivalent/Poised TSS	Gastric	stomach
8	chr20:25737800-25738000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr20:25737800-25738000	ZNF genes & repeats	Thymus	Thymus
10	chr20:25737800-25738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:25737800-25738200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:25737800-25738200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:25738000-25738200	Flanking Bivalent TSS/Enh	Gastric	stomach
14	chr20:25738400-25739800	Weak transcription	Gastric	stomach
15	chr20:25739400-25739600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr20:25740000-25740400	ZNF genes & repeats	Pancreas	Pancrea
17	chr20:25740200-25740400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr20:25740200-25740400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:25740200-25740400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
20	chr20:25740200-25740400	ZNF genes & repeats	Gastric	stomach
21	chr20:25740200-25742000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:25741200-25742000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr20:25741600-25741800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr20:25741600-25742000	ZNF genes & repeats	Pancreas	Pancrea
25	chr20:25741600-25742000	ZNF genes & repeats	Spleen	Spleen
26	chr20:25741800-25742600	ZNF genes & repeats	Gastric	stomach
27	chr20:25742000-25744400	Weak transcription	Spleen	Spleen
28	chr20:25742400-25742600	ZNF genes & repeats	Fetal Kidney	kidney
29	chr20:25744400-25744600	Enhancers	Spleen	Spleen
30	chr20:25755000-25755600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:25755400-25755600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:25757000-25757400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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