Variant report

Variant	nsv912782
Chromosome Location	chr20:14995343-15103600
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	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15042539-15043096	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	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
6	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
7	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
8	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
9	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
10	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
12	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
13	CEBPB	chr20:15041173-15041651	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
14	CEBPB	chr20:14999859-15000028	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:15019746-15020183	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr20:15012975-15013232	HepG2	liver:	n/a	chr20:15013102-15013113
17	CEBPB	chr20:15026013-15026308	HepG2	liver:	n/a	n/a
18	CEBPB	chr20:15013078-15013237	H1-hESC	embryonic stem cell:	n/a	chr20:15013102-15013113
19	CEBPB	chr20:15027696-15027949	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:15040911-15041602	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
21	CEBPB	chr20:15027648-15027952	IMR90	lung:	n/a	n/a
22	CEBPB	chr20:15032377-15032626	HepG2	liver:	n/a	chr20:15032453-15032464
23	CEBPB	chr20:15019775-15020377	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr20:15027700-15027838	A549	lung:	n/a	n/a
25	CEBPB	chr20:15041282-15041553	A549	lung:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
26	CEBPB	chr20:15019736-15020188	MCF-7	breast:	n/a	n/a
27	CEBPB	chr20:15041135-15041621	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
28	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:15041207-15041504	HepG2	liver:	n/a	chr20:15041402-15041419 chr20:15041403-15041414 chr20:15041404-15041415 chr20:15041403-15041416 chr20:15041403-15041416
30	CEBPB	chr20:15032344-15032575	H1-hESC	embryonic stem cell:	n/a	chr20:15032453-15032464
31	CEBPB	chr20:15038141-15038351	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15019716-15020261	MCF-7	breast:	n/a	n/a
33	CEBPB	chr20:15042724-15042972	HepG2	liver:	n/a	chr20:15042893-15042904
34	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
35	CEBPB	chr20:15042564-15043123	HepG2	liver:	n/a	chr20:15042893-15042904
36	CEBPB	chr20:15042716-15043057	MCF-7	breast:	n/a	chr20:15042893-15042904
37	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904
38	CEBPD	chr20:15041207-15041548	HepG2	liver:	n/a	n/a
39	CHD2	chr20:15042505-15042885	HepG2	liver:	n/a	n/a
40	CHD2	chr20:15058609-15058743	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr20:15041252-15041588	HepG2	liver:	n/a	n/a
42	CTCF	chr20:15023020-15023170	HepG2	liver:	n/a	n/a
43	CTCF	chr20:15042620-15042770	HepG2	liver:	n/a	n/a
44	CTCF	chr20:15042480-15042630	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr20:14996820-14996970	GM12871	blood:	n/a	n/a
46	CTCF	chr20:15004000-15004150	A549	lung:	n/a	n/a
47	CTCF	chr20:14997023-14997075	GM20000	blood:	n/a	n/a
48	CTCF	chr20:15007623-15007660	GM20000	blood:	n/a	n/a
49	CTCF	chr20:14996820-14996970	HMEC	breast:	n/a	n/a
50	CTCF	chr20:15103460-15103610	NB4	blood:	n/a	n/a

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

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

Extended variants
information (count: 3119 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3119 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11905979	chr20:14995343-14995344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183175779	chr20:14995391-14995392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574250965	chr20:14995403-14995404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187852039	chr20:14995410-14995411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560446854	chr20:14995435-14995436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572227903	chr20:14995472-14995473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113090058	chr20:14995506-14995507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192763184	chr20:14995521-14995522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531864319	chr20:14995522-14995523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35457761	chr20:14995536-14995537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550252909	chr20:14995539-14995540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550843862	chr20:14995541-14995542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182368562	chr20:14995542-14995543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547987689	chr20:14995586-14995587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566396181	chr20:14995611-14995612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146073964	chr20:14995618-14995619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552170077	chr20:14995760-14995761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567496726	chr20:14995854-14995855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570304482	chr20:14995893-14995894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537556427	chr20:14996032-14996033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34052211	chr20:14996046-14996047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35446211	chr20:14996092-14996093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369615621	chr20:14996100-14996101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574192953	chr20:14996104-14996105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71335979	chr20:14996121-14996122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386393388	chr20:14996122-14996123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535297406	chr20:14996124-14996125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553672941	chr20:14996133-14996134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35022559	chr20:14996134-14996135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572320517	chr20:14996168-14996169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561160823	chr20:14996204-14996205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545751604	chr20:14996206-14996207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386812739	chr20:14996281-14996282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55971115	chr20:14996293-14996294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187941440	chr20:14996303-14996304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192490253	chr20:14996380-14996381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184715871	chr20:14996431-14996432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562191296	chr20:14996485-14996486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76235189	chr20:14996487-14996488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373856882	chr20:14996512-14996513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547984812	chr20:14996534-14996535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76804074	chr20:14996559-14996560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78434620	chr20:14996588-14996589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374764805	chr20:14996601-14996602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138790356	chr20:14996602-14996603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570003862	chr20:14996626-14996627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563344090	chr20:14996661-14996662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551866097	chr20:14996687-14996688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537496651	chr20:14996745-14996746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549344976	chr20:14996799-14996800	Weak transcription 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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14986600-14996400	Weak transcription	Ovary	ovary
2	chr20:14994600-14997000	Weak transcription	Fetal Thymus	thymus
3	chr20:14996400-14997200	Enhancers	Ovary	ovary
4	chr20:14996600-14997600	Enhancers	HepG2	liver
5	chr20:14997000-14997400	Enhancers	Fetal Thymus	thymus
6	chr20:15003400-15004200	Enhancers	HMEC	breast
7	chr20:15004000-15004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:15004200-15007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:15006200-15006400	Enhancers	Brain Germinal Matrix	brain
10	chr20:15006400-15006600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr20:15006400-15007400	Weak transcription	Brain Germinal Matrix	brain
12	chr20:15006400-15008000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:15006600-15007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:15006600-15007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:15007200-15008000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr20:15007200-15008000	Enhancers	Fetal Brain Female	brain
17	chr20:15007400-15008000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:15007400-15008200	Enhancers	Brain Germinal Matrix	brain
19	chr20:15007600-15008000	Enhancers	Fetal Brain Male	brain
20	chr20:15008800-15009200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:15009200-15012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:15009400-15009800	Enhancers	Ovary	ovary
23	chr20:15009600-15009800	Enhancers	Gastric	stomach
24	chr20:15009800-15011400	Weak transcription	Gastric	stomach
25	chr20:15011400-15011600	Enhancers	Gastric	stomach
26	chr20:15011600-15011800	ZNF genes & repeats	Thymus	Thymus
27	chr20:15011600-15012000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:15011600-15012600	Weak transcription	Gastric	stomach
29	chr20:15011800-15012600	Weak transcription	Thymus	Thymus
30	chr20:15012600-15012800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:15012600-15013000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:15012600-15013200	Enhancers	Gastric	stomach
33	chr20:15013000-15013200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr20:15013400-15013800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr20:15013600-15014200	Enhancers	Fetal Thymus	thymus
36	chr20:15013800-15014800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr20:15014000-15014200	Enhancers	Fetal Stomach	stomach
38	chr20:15014000-15015000	Enhancers	Primary hematopoietic stem cells	blood
39	chr20:15014000-15015000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:15014000-15015000	Enhancers	Stomach Smooth Muscle	stomach
41	chr20:15014200-15014800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr20:15014200-15015000	Weak transcription	Fetal Stomach	stomach
43	chr20:15014200-15015800	Weak transcription	Fetal Thymus	thymus
44	chr20:15014400-15014800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:15014400-15015000	Bivalent Enhancer	HepG2	liver
46	chr20:15015000-15015200	Enhancers	Fetal Stomach	stomach
47	chr20:15015000-15016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:15015800-15018200	Enhancers	Fetal Thymus	thymus
49	chr20:15016200-15016400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr20:15016200-15016400	Weak transcription	Thymus	Thymus

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