Variant report

Variant	nsv585461
Chromosome Location	chr20:14697386-14817453
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	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14813151-14813770	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14813148-14813759	GM12878	blood:	n/a	n/a
7	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
8	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
9	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
10	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
11	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
12	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
13	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
14	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
15	BATF	chr20:14813339-14813704	GM12878	blood:	n/a	n/a
16	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
17	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
18	BATF	chr20:14813314-14813717	GM12878	blood:	n/a	n/a
19	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
20	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
21	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
22	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
23	BCL11A	chr20:14813268-14813779	GM12878	blood:	n/a	n/a
24	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
25	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
26	BCL11A	chr20:14813340-14813684	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
28	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
29	BHLHE40	chr20:14813359-14813737	GM12878	blood:	n/a	n/a
30	BRCA1	chr20:14813873-14813966	GM12878	blood:	n/a	n/a
31	BRCA1	chr20:14813522-14813672	GM12878	blood:	n/a	n/a
32	CEBPB	chr20:14756412-14756875	MCF-7	breast:	n/a	n/a
33	CEBPB	chr20:14807946-14808277	HepG2	liver:	n/a	chr20:14808108-14808119
34	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
35	CEBPB	chr20:14812593-14812605	HepG2	liver:	n/a	n/a
36	CEBPB	chr20:14809238-14809473	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
38	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
39	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
40	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
41	CEBPB	chr20:14809151-14809584	ECC-1	luminal epithelium:	n/a	n/a
42	CEBPB	chr20:14809270-14809471	HepG2	liver:	n/a	n/a
43	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
44	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
45	CEBPB	chr20:14807944-14808247	A549	lung:	n/a	chr20:14808108-14808119
46	CEBPB	chr20:14779516-14779580	H1-hESC	embryonic stem cell:	n/a	chr20:14779546-14779557
47	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
48	CEBPB	chr20:14779446-14779642	HepG2	liver:	n/a	chr20:14779546-14779557
49	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
50	CHD2	chr20:14777993-14778007	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
2	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
3	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
4	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
5	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
6	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
7	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
8	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
9	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
10	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
11	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
12	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
13	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
14	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
15	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
16	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
17	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
18	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
19	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
20	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
21	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
22	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-4	chr20:14812896-14813240	ucscGeneNc_uc002woy_1
2	lnc-FLRT3-4	chr20:14816742-14816950	ucscGeneNc_uc002woy_1

Variant related genes	Relation type
RPS10P2	TF binding region

Extended variants
information (count: 2869 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2869 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6079537	chr20:14697386-14697387	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527832638	chr20:14697395-14697396	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546420668	chr20:14697446-14697447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs56218106	chr20:14697447-14697448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564611194	chr20:14697463-14697464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147630721	chr20:14697474-14697475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531912053	chr20:14697485-14697486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550086140	chr20:14697501-14697502	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568480244	chr20:14697535-14697536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529652746	chr20:14697549-14697550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112481407	chr20:14697576-14697577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547930775	chr20:14697578-14697579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566609517	chr20:14697610-14697611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4141804	chr20:14697637-14697638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576127200	chr20:14697650-14697651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558751234	chr20:14697670-14697671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7347361	chr20:14697701-14697702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs16994831	chr20:14697784-14697785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556510307	chr20:14697809-14697810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569607627	chr20:14697839-14697840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574842874	chr20:14697850-14697851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145926550	chr20:14697874-14697875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6074776	chr20:14697914-14697915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115368828	chr20:14697936-14697937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546062121	chr20:14697965-14697966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536491202	chr20:14697993-14697994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6034017	chr20:14697999-14698000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531805768	chr20:14698030-14698031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543668794	chr20:14698067-14698068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553521504	chr20:14698077-14698078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190948035	chr20:14698138-14698139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11482339	chr20:14698180-14698181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs62202949	chr20:14698196-14698197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538351637	chr20:14698224-14698225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529638601	chr20:14698234-14698235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs16990099	chr20:14698239-14698240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371150661	chr20:14698266-14698267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538351055	chr20:14698267-14698268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs16990101	chr20:14698300-14698301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183291235	chr20:14698304-14698305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552007547	chr20:14698353-14698354	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs6074777	chr20:14698357-14698358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538045290	chr20:14698394-14698395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556448783	chr20:14698447-14698448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568409019	chr20:14698486-14698487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535838080	chr20:14698504-14698505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554168248	chr20:14698525-14698526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113010481	chr20:14698527-14698528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74607558	chr20:14698534-14698535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186165767	chr20:14698546-14698547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
2	chr20:14693200-14698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:14693400-14698200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:14693600-14697800	Weak transcription	Fetal Intestine Large	intestine
5	chr20:14693800-14698200	Weak transcription	Fetal Lung	lung
6	chr20:14694200-14697600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:14694200-14697600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:14694200-14698600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:14694400-14698400	Weak transcription	Stomach Mucosa	stomach
10	chr20:14694400-14700400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:14695400-14698400	Weak transcription	Pancreas	Pancrea
12	chr20:14696000-14697600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:14696200-14697400	Enhancers	Fetal Brain Male	brain
14	chr20:14696200-14698600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:14696400-14697400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr20:14696400-14697400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:14696400-14697600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:14696400-14697600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr20:14696800-14697400	Enhancers	Brain Germinal Matrix	brain
20	chr20:14696800-14697600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr20:14696800-14697600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr20:14697000-14697400	Flanking Active TSS	Fetal Brain Female	brain
23	chr20:14697000-14699200	Enhancers	Fetal Intestine Small	intestine
24	chr20:14697200-14697400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr20:14697200-14697400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr20:14697200-14697400	Enhancers	Brain Anterior Caudate	brain
27	chr20:14697200-14697600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr20:14697200-14697600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr20:14697200-14697600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr20:14697200-14697600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr20:14697200-14697600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr20:14697200-14698000	Enhancers	A549	lung
33	chr20:14697200-14698800	Enhancers	Liver	Liver
34	chr20:14697400-14697600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr20:14697400-14697600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:14697400-14697600	Enhancers	Fetal Brain Female	brain
37	chr20:14697400-14698600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr20:14697600-14698200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr20:14697600-14698200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr20:14697600-14698400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr20:14697600-14698600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr20:14697600-14698600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr20:14697600-14698600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:14697600-14698800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr20:14697600-14702200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:14697600-14703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr20:14697600-14706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:14697800-14699400	Enhancers	Fetal Intestine Large	intestine
49	chr20:14698000-14698600	Flanking Active TSS	A549	lung
50	chr20:14698200-14698600	Enhancers	Fetal Kidney	kidney

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