Variant report

Variant	nsv1062600
Chromosome Location	chr20:14999727-15128322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
3	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
4	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
5	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
6	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
7	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
8	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
9	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
10	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
13	CEBPB	chr20:15013078-15013237	H1-hESC	embryonic stem cell:	n/a	chr20:15013102-15013113
14	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
16	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
17	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
18	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
19	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
20	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
21	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
22	CEBPB	chr20:15120303-15120457	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904
24	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
25	CEBPB	chr20:15127779-15128095	HepG2	liver:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
26	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
27	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
30	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
31	CEBPB	chr20:15027700-15027838	A549	lung:	n/a	n/a
32	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
33	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
34	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
36	CEBPB	chr20:15012975-15013232	HepG2	liver:	n/a	chr20:15013102-15013113
37	CEBPB	chr20:15127751-15128049	MCF-7	breast:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
38	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
39	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
40	CEBPB	chr20:15026013-15026308	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:15127824-15128039	A549	lung:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
42	CEBPD	chr20:15041207-15041548	HepG2	liver:	n/a	n/a
43	CHD2	chr20:15041252-15041588	HepG2	liver:	n/a	n/a
44	CHD2	chr20:15042505-15042885	HepG2	liver:	n/a	n/a
45	CHD2	chr20:15058609-15058743	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr20:15023014-15023129	NHEK	skin:	n/a	n/a
47	CTCF	chr20:15042620-15042770	SAEC	small airway:	n/a	n/a
48	CTCF	chr20:15103780-15103930	Caco-2	colon:	n/a	n/a
49	CTCF	chr20:15042640-15042790	HMEC	breast:	n/a	n/a
50	CTCF	chr20:15042660-15042810	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:
2	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

Variant related genes	Relation type
RNU6-1159P	TF binding region
RNU6-115P	TF binding region

Extended variants
information (count: 3512 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3512 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6079633	chr20:14999877-14999878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs6135326	chr20:14999881-14999882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372637696	chr20:14999929-14999930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188300932	chr20:14999956-14999957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs6135327	chr20:14999958-14999959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556519379	chr20:14999974-14999975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574696753	chr20:15001631-15001632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs530317225	chr20:15001633-15001634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541584071	chr20:15001654-15001655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541713408	chr20:15001663-15001664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560547305	chr20:15001665-15001666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141890752	chr20:15001683-15001684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563567745	chr20:15001723-15001724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111896939	chr20:15001729-15001730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150574030	chr20:15001740-15001741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528166214	chr20:15001741-15001742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs202027491	chr20:15001747-15001748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567141555	chr20:15001751-15001752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs376689831	chr20:15001752-15001753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200220157	chr20:15001755-15001756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs367931232	chr20:15001756-15001757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201279561	chr20:15001763-15001764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368283801	chr20:15001767-15001768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs144666369	chr20:15001770-15001771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544048195	chr20:15001778-15001779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs140466288	chr20:15001783-15001784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372165989	chr20:15001784-15001785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs144523180	chr20:15001789-15001790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114218777	chr20:15001796-15001797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566357105	chr20:15001802-15001803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs374154581	chr20:15001810-15001811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs147734165	chr20:15001824-15001825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs59756685	chr20:15001830-15001831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs56715078	chr20:15001831-15001832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555050074	chr20:15001838-15001839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs145170102	chr20:15002142-15002143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572477931	chr20:15002166-15002167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535319845	chr20:15002168-15002169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541511753	chr20:15002172-15002173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201747776	chr20:15002180-15002181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs572702423	chr20:15002191-15002192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111274976	chr20:15002221-15002222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs369065272	chr20:15002235-15002236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575518072	chr20:15003166-15003167	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs548334831	chr20:15003214-15003215	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs146468360	chr20:15003229-15003230	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs369465792	chr20:15003252-15003253	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs374262575	chr20:15003284-15003285	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs138853976	chr20:15003293-15003294	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs559485057	chr20:15003464-15003465	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	17363583	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15003400-15004200	Enhancers	HMEC	breast
2	chr20:15004000-15004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:15004200-15007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:15006200-15006400	Enhancers	Brain Germinal Matrix	brain
5	chr20:15006400-15006600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:15006400-15007400	Weak transcription	Brain Germinal Matrix	brain
7	chr20:15006400-15008000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:15006600-15007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr20:15006600-15007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:15007200-15008000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:15007200-15008000	Enhancers	Fetal Brain Female	brain
12	chr20:15007400-15008000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:15007400-15008200	Enhancers	Brain Germinal Matrix	brain
14	chr20:15007600-15008000	Enhancers	Fetal Brain Male	brain
15	chr20:15008800-15009200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:15009200-15012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:15009400-15009800	Enhancers	Ovary	ovary
18	chr20:15009600-15009800	Enhancers	Gastric	stomach
19	chr20:15009800-15011400	Weak transcription	Gastric	stomach
20	chr20:15011400-15011600	Enhancers	Gastric	stomach
21	chr20:15011600-15011800	ZNF genes & repeats	Thymus	Thymus
22	chr20:15011600-15012000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:15011600-15012600	Weak transcription	Gastric	stomach
24	chr20:15011800-15012600	Weak transcription	Thymus	Thymus
25	chr20:15012600-15012800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:15012600-15013000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:15012600-15013200	Enhancers	Gastric	stomach
28	chr20:15013000-15013200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr20:15013400-15013800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr20:15013600-15014200	Enhancers	Fetal Thymus	thymus
31	chr20:15013800-15014800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr20:15014000-15014200	Enhancers	Fetal Stomach	stomach
33	chr20:15014000-15015000	Enhancers	Primary hematopoietic stem cells	blood
34	chr20:15014000-15015000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr20:15014000-15015000	Enhancers	Stomach Smooth Muscle	stomach
36	chr20:15014200-15014800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr20:15014200-15015000	Weak transcription	Fetal Stomach	stomach
38	chr20:15014200-15015800	Weak transcription	Fetal Thymus	thymus
39	chr20:15014400-15014800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr20:15014400-15015000	Bivalent Enhancer	HepG2	liver
41	chr20:15015000-15015200	Enhancers	Fetal Stomach	stomach
42	chr20:15015000-15016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr20:15015800-15018200	Enhancers	Fetal Thymus	thymus
44	chr20:15016200-15016400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:15016200-15016400	Weak transcription	Thymus	Thymus
46	chr20:15016400-15018200	Enhancers	Thymus	Thymus
47	chr20:15016400-15019400	Enhancers	Dnd41	blood
48	chr20:15016600-15016800	Enhancers	Stomach Smooth Muscle	stomach
49	chr20:15017600-15018200	Enhancers	Primary T cells from cord blood	blood
50	chr20:15018200-15019200	Weak transcription	Fetal Thymus	thymus

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