Variant report

Variant	nsv1061851
Chromosome Location	chr20:14694427-14823893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:789)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14819159-14819726	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14813148-14813759	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
7	ATF2	chr20:14813151-14813770	GM12878	blood:	n/a	n/a
8	ATF2	chr20:14819109-14819739	GM12878	blood:	n/a	n/a
9	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
10	ATF2	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
11	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
12	BATF	chr20:14813339-14813704	GM12878	blood:	n/a	n/a
13	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
14	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
15	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
16	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
17	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
18	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
19	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
20	BATF	chr20:14819247-14819774	GM12878	blood:	n/a	chr20:14819441-14819452
21	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
22	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
23	BATF	chr20:14819170-14819805	GM12878	blood:	n/a	chr20:14819441-14819452
24	BATF	chr20:14813314-14813717	GM12878	blood:	n/a	n/a
25	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
26	BCL11A	chr20:14819190-14819731	GM12878	blood:	n/a	chr20:14819415-14819424
27	BCL11A	chr20:14813268-14813779	GM12878	blood:	n/a	n/a
28	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
29	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
30	BCL11A	chr20:14813340-14813684	GM12878	blood:	n/a	n/a
31	BCL11A	chr20:14819269-14819704	GM12878	blood:	n/a	chr20:14819415-14819424
32	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
33	BCLAF1	chr20:14819282-14819800	GM12878	blood:	n/a	chr20:14819415-14819424
34	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
35	BHLHE40	chr20:14813359-14813737	GM12878	blood:	n/a	n/a
36	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
37	BHLHE40	chr20:14819263-14819709	GM12878	blood:	n/a	n/a
38	BRCA1	chr20:14813522-14813672	GM12878	blood:	n/a	n/a
39	BRCA1	chr20:14813873-14813966	GM12878	blood:	n/a	n/a
40	CEBPB	chr20:14809270-14809471	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:14809238-14809473	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
43	CEBPB	chr20:14812593-14812605	HepG2	liver:	n/a	n/a
44	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
45	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
46	CEBPB	chr20:14809151-14809584	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr20:14807946-14808277	HepG2	liver:	n/a	chr20:14808108-14808119
48	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
49	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
50	CEBPB	chr20:14779516-14779580	H1-hESC	embryonic stem cell:	n/a	chr20:14779546-14779557

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
2	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
3	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
4	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
5	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
6	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
7	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
8	chr20:14819830..14820468-chr4:11534089..11534643,2	MCF-7	breast:
9	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
10	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
11	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
12	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
13	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
14	chr20:14819967..14822472-chr20:14824610..14827210,3	MCF-7	breast:
15	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
16	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
17	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
18	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
19	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
20	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
21	chr20:14822570..14824766-chr20:14826157..14827975,2	MCF-7	breast:
22	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
23	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
24	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
25	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
26	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RPS10P2	TF binding region

Extended variants
information (count: 3232 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3232 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs949877	chr20:14694427-14694428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559471452	chr20:14694431-14694432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532996980	chr20:14694496-14694497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116555026	chr20:14694527-14694528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552000024	chr20:14694545-14694546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185865070	chr20:14694556-14694557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549005491	chr20:14694588-14694589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6110405	chr20:14694589-14694590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534817690	chr20:14694669-14694670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553209815	chr20:14694682-14694683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146263299	chr20:14694722-14694723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373845513	chr20:14694745-14694746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538865340	chr20:14694753-14694754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75601163	chr20:14694811-14694812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73899261	chr20:14694882-14694883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576050146	chr20:14694903-14694904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189277000	chr20:14694950-14694951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571728464	chr20:14694964-14694965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8117889	chr20:14694976-14694977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573701416	chr20:14694977-14694978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541094133	chr20:14694984-14694985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11087103	chr20:14695004-14695005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533101354	chr20:14695017-14695018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572014218	chr20:14695047-14695048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192226016	chr20:14695054-14695055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201723182	chr20:14695068-14695069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534534556	chr20:14695118-14695119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184259225	chr20:14695119-14695120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548942221	chr20:14695138-14695139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567291832	chr20:14695147-14695148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368343598	chr20:14695182-14695183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557656718	chr20:14695188-14695189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35174277	chr20:14695201-14695202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148267551	chr20:14695202-14695203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547027471	chr20:14695203-14695204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141168979	chr20:14695209-14695210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150710049	chr20:14695242-14695243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557307511	chr20:14695280-14695281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552819384	chr20:14695291-14695292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369929639	chr20:14695293-14695294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137995572	chr20:14695355-14695356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11087104	chr20:14695379-14695380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555318405	chr20:14695403-14695404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573639739	chr20:14695419-14695420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548125300	chr20:14695426-14695427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142412216	chr20:14695429-14695430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188826755	chr20:14695451-14695452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181446497	chr20:14695489-14695490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112112537	chr20:14695557-14695558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543602889	chr20:14695571-14695572	Weak transcription Enhancers	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:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
2	chr20:14686200-14694600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:14690800-14696800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:14690800-14697200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:14691400-14697200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:14691600-14696400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:14692800-14696200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr20:14693200-14696200	Weak transcription	Fetal Brain Female	brain
9	chr20:14693200-14696800	Weak transcription	Brain Germinal Matrix	brain
10	chr20:14693200-14698400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:14693400-14696400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:14693400-14698200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr20:14693600-14694800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr20:14693600-14696400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:14693600-14697000	Weak transcription	Fetal Intestine Small	intestine
16	chr20:14693600-14697800	Weak transcription	Fetal Intestine Large	intestine
17	chr20:14693800-14694600	Weak transcription	Aorta	Aorta
18	chr20:14693800-14694600	Weak transcription	Fetal Heart	heart
19	chr20:14693800-14695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr20:14693800-14695800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr20:14693800-14696400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr20:14693800-14698200	Weak transcription	Fetal Lung	lung
23	chr20:14694000-14697200	Weak transcription	Liver	Liver
24	chr20:14694200-14694600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr20:14694200-14696200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:14694200-14697200	Weak transcription	A549	lung
27	chr20:14694200-14697600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:14694200-14697600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:14694200-14698600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:14694400-14696400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr20:14694400-14698400	Weak transcription	Stomach Mucosa	stomach
32	chr20:14694400-14700400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:14694600-14694800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr20:14694600-14694800	Enhancers	Aorta	Aorta
35	chr20:14694600-14695000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr20:14694600-14695000	Enhancers	Fetal Heart	heart
37	chr20:14694600-14695400	Enhancers	Pancreas	Pancrea
38	chr20:14694600-14695600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:14694800-14695000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr20:14694800-14696400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr20:14695000-14695200	Weak transcription	Fetal Heart	heart
42	chr20:14695000-14696800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr20:14695200-14695600	Enhancers	Fetal Heart	heart
44	chr20:14695400-14698400	Weak transcription	Pancreas	Pancrea
45	chr20:14695600-14696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:14695600-14696800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr20:14695800-14696400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr20:14696000-14697600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:14696200-14697000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr20:14696200-14697000	Enhancers	Fetal Brain Female	brain

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