Variant report

Variant	esv1002059
Chromosome Location	chr20:25164737-25175153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:183)
Chromatin interactive
region (count:12)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr20:25173713-25174013	K562	blood:	n/a	n/a
2	CEBPB	chr20:25165142-25165235	IMR90	lung:	n/a	n/a
3	CEBPB	chr20:25165149-25165346	A549	lung:	n/a	n/a
4	CEBPB	chr20:25165049-25165353	HepG2	liver:	n/a	n/a
5	CTCF	chr20:25171760-25171910	AG04449	skin:	n/a	n/a
6	CTCF	chr20:25171400-25171550	HepG2	liver:	n/a	n/a
7	CTCF	chr20:25171780-25171930	AoAF	blood vessel:	n/a	n/a
8	FOXA1	chr20:25165013-25165379	HepG2	liver:	n/a	n/a
9	FOXA1	chr20:25167046-25167268	HepG2	liver:	n/a	n/a
10	FOXA1	chr20:25166606-25166908	HepG2	liver:	n/a	n/a
11	FOXA1	chr20:25167049-25167358	HepG2	liver:	n/a	n/a
12	FOXA2	chr20:25166932-25167312	A549	lung:	n/a	n/a
13	FOXA2	chr20:25167072-25167265	HepG2	liver:	n/a	n/a
14	FOXA2	chr20:25165129-25165305	HepG2	liver:	n/a	n/a
15	GATA3	chr20:25167501-25167736	T-47D	breast:	n/a	n/a
16	IRF1	chr20:25174678-25174873	K562	blood:	n/a	n/a
17	JUND	chr20:25165152-25165227	HepG2	liver:	n/a	n/a
18	KAP1	chr20:25168800-25169324	HEK293	kidney:	n/a	n/a
19	MAFK	chr20:25169818-25169866	HepG2	liver:	n/a	n/a
20	MYC	chr20:25172851-25172954	H1-hESC	embryonic stem cell:	n/a	n/a
21	NR2F2	chr20:25168864-25169137	K562	blood:	n/a	n/a
22	POLR2A	chr20:25174798-25174826	HepG2	liver:	n/a	n/a
23	POLR2A	chr20:25174699-25174817	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr20:25174831-25177043	HepG2	liver:	n/a	n/a
25	POLR2A	chr20:25174752-25174783	HepG2	liver:	n/a	n/a
26	POLR2A	chr20:25175042-25175394	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr20:25175031-25175820	A549	lung:	n/a	n/a
28	PRDM1	chr20:25174575-25174694	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr20:25168989-25168990	K562	blood:	n/a	n/a
30	RFX5	chr20:25174536-25174787	GM12878	blood:	n/a	n/a
31	RXRA	chr20:25165135-25165361	HepG2	liver:	n/a	n/a
32	SP1	chr20:25165012-25165398	HepG2	liver:	n/a	n/a
33	STAT3	chr20:25174644-25174759	MCF10A-Er-Src	breast:	n/a	n/a
34	WRNIP1	chr20:25174619-25174666	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25175138-25175188	AG04449	skin:	fetal
2	chr20:25174319-25174369	SK-N-SH	brain:	n/a
3	chr20:25175138-25175188	AG09309	skin:	n/a
4	chr20:25172755-25172805	GM12892	blood:	n/a
5	chr20:25175138-25175188	SKMC	muscle:	n/a
6	chr20:25174319-25174369	T-47D	breast:	n/a
7	chr20:25175138-25175188	K562	blood:	n/a
8	chr20:25174319-25174369	U87	brain:	n/a
9	chr20:25175138-25175188	HCPEpiC	choroid plexus:	n/a
10	chr20:25175138-25175188	SK-N-SH	brain:	n/a
11	chr20:25172755-25172805	PANC-1	pancreas:	n/a
12	chr20:25175138-25175188	NT2-D1	testis:	n/a
13	chr20:25172755-25172805	HAEpiC	amniotic membrane:	n/a
14	chr20:25172755-25172805	HCT-116	colon:	n/a
15	chr20:25175138-25175188	ProgFib	skin:	n/a
16	chr20:25175138-25175188	T-47D	breast:	n/a
17	chr20:25175138-25175188	NB4	blood:	n/a
18	chr20:25172755-25172805	HCF	heart:	n/a
19	chr20:25172755-25172805	AoSMC	blood vessel:	n/a
20	chr20:25175138-25175188	SK-N-SH_RA	brain:	n/a
21	chr20:25175138-25175188	BE2_C	brain:	n/a
22	chr20:25174319-25174369	MCF10A-Er-Src	breast:	n/a
23	chr20:25174319-25174369	Hela-S3	cervix:	n/a
24	chr20:25174319-25174369	HPAEpiC	pulmonary alveolar:	n/a
25	chr20:25175138-25175188	BJ	skin:	n/a
26	chr20:25172755-25172805	HUVEC	blood vessel:	n/a
27	chr20:25172755-25172805	HRPEpiC	eye:	n/a
28	chr20:25174319-25174369	HAEpiC	amniotic membrane:	n/a
29	chr20:25172755-25172805	PrEC	prostate:	n/a
30	chr20:25174319-25174369	HCT-116	colon:	n/a
31	chr20:25172755-25172805	Jurkat	blood:	n/a
32	chr20:25174319-25174369	GM12891	blood:	n/a
33	chr20:25174319-25174369	HepG2	liver:	n/a
34	chr20:25175138-25175188	HMEC	breast:	n/a
35	chr20:25172755-25172805	HMEC	breast:	n/a
36	chr20:25174319-25174369	SK-N-SH_RA	brain:	n/a
37	chr20:25174319-25174369	CMK	blood:	n/a
38	chr20:25175138-25175188	NHBE	bronchial:	n/a
39	chr20:25174319-25174369	AoSMC	blood vessel:	n/a
40	chr20:25174319-25174369	Caco-2	colon:	n/a
41	chr20:25172755-25172805	SKMC	muscle:	n/a
42	chr20:25175138-25175188	NHDF-neo	bronchial:	n/a
43	chr20:25172755-25172805	IMR90	lung:	fetal
44	chr20:25172755-25172805	Hela-S3	cervix:	n/a
45	chr20:25174319-25174369	HRCEpiC	kidney:	n/a
46	chr20:25174319-25174369	HCPEpiC	choroid plexus:	n/a
47	chr20:25172755-25172805	SAEC	small airway:	n/a
48	chr20:25174319-25174369	NB4	blood:	n/a
49	chr20:25172755-25172805	HCPEpiC	choroid plexus:	n/a
50	chr20:25172755-25172805	NHBE	bronchial:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25166380..25169258-chr20:25173266..25174773,2	K562	blood:
2	chr20:25173813..25179807-chr20:25203379..25207002,9	MCF-7	breast:
3	chr20:25174902..25179249-chr20:25225017..25231959,9	MCF-7	breast:
4	chr20:25167222..25169276-chr20:25170020..25172814,2	MCF-7	breast:
5	chr20:25166380..25169258-chr20:25173266..25174773,2	K562	blood:
6	chr20:25174010..25179528-chr20:25225802..25231331,13	MCF-7	breast:
7	chr20:24971936..24974944-chr20:25175039..25178381,3	MCF-7	breast:
8	chr20:25167996..25170885-chr20:25176013..25177980,3	K562	blood:
9	chr20:25174588..25176232-chr20:25268673..25270382,2	MCF-7	breast:
10	chr20:25167222..25169276-chr20:25170020..25172814,2	MCF-7	breast:
11	chr20:25056370..25059250-chr20:25174569..25177571,3	MCF-7	breast:
12	chr20:25171254..25173860-chr20:25228240..25230126,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABHD12-4	chr20:25168489-25168583	NR_109994
2	lnc-ABHD12-4	chr20:25165308-25166796	NR_109994
3	lnc-ABHD12-4	chr20:25167178-25167335	NONHSAT079137
4	lnc-ABHD12-4	chr20:25167533-25167615	NONHSAT079137
5	lnc-ABHD12-4	chr20:25168489-25168583	NONHSAT079137
6	lnc-ABHD12-4	chr20:25165310-25166796	NONHSAT079137
7	lnc-ABHD12-4	chr20:25170854-25170938	NONHSAT079137
8	lnc-ABHD12-4	chr20:25170854-25170938	NR_109994
9	lnc-ABHD12-4	chr20:25167178-25167335	NR_109994
10	lnc-ABHD12-4	chr20:25167533-25167615	NR_109994

No data

Variant related genes	Relation type
ENTPD6	TF binding region
ENTPD6	CpG island
ENSG00000197586	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000100987	chromatin interactions
ENSG00000101474	chromatin interactions

Extended variants
information (count: 387 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139887748	chr20:25164828-25164829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190364483	chr20:25164829-25164830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149430784	chr20:25164830-25164831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199695789	chr20:25164831-25164832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554177601	chr20:25164837-25164838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544500028	chr20:25164842-25164843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112462303	chr20:25164853-25164854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144828396	chr20:25164927-25164928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148623931	chr20:25164942-25164943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181784978	chr20:25164970-25164971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142056094	chr20:25164980-25164981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147760606	chr20:25165008-25165009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370923481	chr20:25165043-25165044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547331236	chr20:25165081-25165082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570673252	chr20:25165107-25165108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533030898	chr20:25165138-25165139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578098978	chr20:25165140-25165141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186855431	chr20:25165146-25165147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7343970	chr20:25165165-25165166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189577706	chr20:25165169-25165170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6083769	chr20:25165240-25165241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4813554	chr20:25165279-25165280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73620338	chr20:25165294-25165295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540191524	chr20:25165304-25165305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563994808	chr20:25165311-25165312	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs554106888	chr20:25165354-25165355	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs6115075	chr20:25165384-25165385	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181113320	chr20:25165410-25165411	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185499748	chr20:25165411-25165412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs147618360	chr20:25165412-25165413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576753968	chr20:25165417-25165418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs559508405	chr20:25165449-25165450	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs527738355	chr20:25165450-25165451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142151565	chr20:25165451-25165452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201300957	chr20:25165520-25165521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs561666531	chr20:25165536-25165537	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs192117668	chr20:25165636-25165637	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs375819191	chr20:25165639-25165640	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6083770	chr20:25165641-25165642	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527348530	chr20:25165725-25165726	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs540693753	chr20:25165777-25165778	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs564138521	chr20:25165793-25165794	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs529247690	chr20:25165794-25165795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs150179967	chr20:25165803-25165804	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs549706239	chr20:25165834-25165835	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs138641033	chr20:25165875-25165876	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs529058441	chr20:25165881-25165882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs549127103	chr20:25165898-25165899	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs148892880	chr20:25166043-25166044	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189764307	chr20:25166099-25166100	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	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
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25164800-25168000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:25166800-25169400	Enhancers	Thymus	Thymus
3	chr20:25167400-25169400	Enhancers	Fetal Heart	heart
4	chr20:25167600-25169400	Enhancers	Dnd41	blood
5	chr20:25167800-25169400	Enhancers	Lung	lung
6	chr20:25167800-25169400	Enhancers	Ovary	ovary
7	chr20:25167800-25169600	Enhancers	Fetal Thymus	thymus
8	chr20:25168000-25168200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr20:25168000-25168600	Enhancers	Placenta	Placenta
10	chr20:25168200-25168600	Enhancers	Left Ventricle	heart
11	chr20:25168200-25169400	Enhancers	Right Atrium	heart
12	chr20:25168200-25169600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr20:25168200-25175800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr20:25168600-25169000	Weak transcription	Left Ventricle	heart
15	chr20:25168600-25169200	Enhancers	Fetal Lung	lung
16	chr20:25168600-25171400	Weak transcription	Placenta	Placenta
17	chr20:25168800-25169400	Enhancers	Fetal Intestine Large	intestine
18	chr20:25168800-25175200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:25169000-25169200	Enhancers	Left Ventricle	heart
20	chr20:25169000-25169200	Enhancers	Right Ventricle	heart
21	chr20:25169200-25169400	Enhancers	Gastric	stomach
22	chr20:25169200-25170800	Weak transcription	Left Ventricle	heart
23	chr20:25169200-25171200	Weak transcription	Right Ventricle	heart
24	chr20:25169200-25175600	Weak transcription	Fetal Lung	lung
25	chr20:25169400-25170800	Weak transcription	Fetal Heart	heart
26	chr20:25169400-25170800	Weak transcription	Ovary	ovary
27	chr20:25169400-25170800	Weak transcription	Right Atrium	heart
28	chr20:25169400-25171400	Weak transcription	Thymus	Thymus
29	chr20:25169400-25175200	Weak transcription	Lung	lung
30	chr20:25169400-25175600	Weak transcription	Gastric	stomach
31	chr20:25169600-25171600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr20:25170800-25171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:25170800-25171400	Enhancers	Fetal Heart	heart
34	chr20:25170800-25171800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:25170800-25171800	Enhancers	Aorta	Aorta
36	chr20:25170800-25171800	Enhancers	Left Ventricle	heart
37	chr20:25170800-25173000	Enhancers	Right Atrium	heart
38	chr20:25170800-25173200	Enhancers	Ovary	ovary
39	chr20:25171000-25171800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr20:25171200-25171600	Enhancers	Right Ventricle	heart
41	chr20:25171200-25173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr20:25171200-25173000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:25171400-25171600	Flanking Active TSS	Fetal Heart	heart
44	chr20:25171400-25172000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr20:25171400-25172600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr20:25171400-25173000	Enhancers	Placenta	Placenta
47	chr20:25171400-25173000	Enhancers	Pancreas	Pancrea
48	chr20:25171400-25173200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:25171400-25175600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr20:25171600-25171800	Enhancers	Thymus	Thymus

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