Variant report

Variant	nsv1063055
Chromosome Location	chr20:14681510-14739573
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	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
4	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
5	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
6	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
7	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
8	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
9	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
10	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
11	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
12	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
13	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
14	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
15	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
16	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
17	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
18	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
19	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
20	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
22	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
24	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
25	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
26	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
27	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
28	CHD2	chr20:14704417-14704689	GM12878	blood:	n/a	n/a
29	CHD2	chr20:14737473-14737585	HepG2	liver:	n/a	n/a
30	CTCF	chr20:14722400-14722550	AG10803	skin:	n/a	n/a
31	CTCF	chr20:14690760-14690910	BE2_C	brain:	n/a	n/a
32	CTCF	chr20:14690860-14691010	A549	lung:	n/a	n/a
33	CTCF	chr20:14690800-14690950	HMEC	breast:	n/a	n/a
34	CTCF	chr20:14738480-14738630	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr20:14738555-14738628	Medullo	brain:	n/a	n/a
36	CTCF	chr20:14722340-14722490	HMEC	breast:	n/a	n/a
37	CTCF	chr20:14722330-14722535	GM12878	blood:	n/a	n/a
38	CTCF	chr20:14738412-14738711	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr20:14738518-14738694	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr20:14712286-14712297	GM12878	blood:	n/a	n/a
41	CTCF	chr20:14722320-14722470	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr20:14690717-14690865	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr20:14726006-14726151	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:14690740-14690890	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr20:14738536-14738602	A549	lung:	n/a	n/a
46	CTCF	chr20:14690740-14690890	HEK293	kidney:	n/a	n/a
47	CTCF	chr20:14690780-14690930	HPF	lung:	n/a	n/a
48	CTCF	chr20:14690700-14690990	HRE	kidney:	n/a	n/a
49	CTCF	chr20:14690793-14690905	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:14690769-14690872	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
2	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
3	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
4	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
5	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
6	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
7	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
8	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:

Variant related genes	Relation type
RPS10P2	TF binding region
ENSG00000227927	chromatin interactions

Extended variants
information (count: 1638 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1638 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555152622	chr20:14681529-14681530	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559442311	chr20:14681602-14681603	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573424915	chr20:14681630-14681631	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540951089	chr20:14681632-14681633	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565606063	chr20:14681701-14681702	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189807994	chr20:14681763-14681764	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545066143	chr20:14681799-14681800	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1932952	chr20:14681801-14681802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530634814	chr20:14681838-14681839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548865692	chr20:14681855-14681856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180992692	chr20:14681856-14681857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1932951	chr20:14681863-14681864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6042864	chr20:14681876-14681877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1932950	chr20:14681958-14681959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185224127	chr20:14681962-14681963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188168453	chr20:14681976-14681977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386812718	chr20:14682006-14682007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6042865	chr20:14682008-14682009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs60857979	chr20:14682066-14682067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554838921	chr20:14682071-14682072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35975910	chr20:14682086-14682087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573364963	chr20:14682135-14682136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181953824	chr20:14682199-14682200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139502955	chr20:14682206-14682207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76473367	chr20:14682212-14682213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577662271	chr20:14682224-14682225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544976477	chr20:14682256-14682257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145003008	chr20:14682264-14682265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575217701	chr20:14682280-14682281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147597004	chr20:14682297-14682298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113790840	chr20:14682333-14682334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6135228	chr20:14682334-14682335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187204119	chr20:14682356-14682357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142027880	chr20:14682368-14682369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73612374	chr20:14682388-14682389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532282208	chr20:14682429-14682430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145295367	chr20:14682430-14682431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569257495	chr20:14682448-14682449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75086073	chr20:14682462-14682463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191775438	chr20:14682513-14682514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548647991	chr20:14682551-14682552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6042866	chr20:14682568-14682569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566893095	chr20:14682569-14682570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6042867	chr20:14682638-14682639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73899256	chr20:14682667-14682668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559200648	chr20:14682689-14682690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149220610	chr20:14682693-14682694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183628523	chr20:14682701-14682702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186502117	chr20:14682718-14682719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143415370	chr20:14682719-14682720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14677800-14681600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr20:14678000-14682000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:14678800-14682000	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:14679600-14682800	Enhancers	Fetal Intestine Small	intestine
5	chr20:14679800-14681800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14679800-14681800	Enhancers	NHEK	skin
7	chr20:14680200-14681600	Enhancers	Liver	Liver
8	chr20:14680800-14681600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:14680800-14681800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:14680800-14681800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr20:14680800-14681800	Enhancers	Duodenum Mucosa	Duodenum
12	chr20:14680800-14681800	Enhancers	A549	lung
13	chr20:14680800-14682000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:14680800-14682000	Enhancers	NHDF-Ad	bronchial
15	chr20:14680800-14682200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:14681000-14681600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:14681000-14681600	Enhancers	Fetal Kidney	kidney
18	chr20:14681000-14681800	Enhancers	Fetal Brain Male	brain
19	chr20:14681000-14681800	Enhancers	HMEC	breast
20	chr20:14681200-14681600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr20:14681200-14681600	Enhancers	GM12878-XiMat	blood
22	chr20:14681200-14682000	Enhancers	Stomach Mucosa	stomach
23	chr20:14681200-14682200	Enhancers	Fetal Heart	heart
24	chr20:14681400-14681600	Enhancers	Pancreas	Pancrea
25	chr20:14681400-14681600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr20:14681400-14681800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:14681400-14681800	Active TSS	Rectal Smooth Muscle	rectum
28	chr20:14681400-14682200	Enhancers	Fetal Intestine Large	intestine
29	chr20:14681600-14681800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:14681600-14682200	Enhancers	Fetal Brain Female	brain
31	chr20:14681600-14682200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr20:14681600-14682200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr20:14681600-14682400	Enhancers	Small Intestine	intestine
34	chr20:14681600-14687200	Weak transcription	Liver	Liver
35	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
36	chr20:14681800-14682000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr20:14681800-14685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:14681800-14685200	Weak transcription	NHEK	skin
39	chr20:14682000-14682200	Enhancers	Colon Smooth Muscle	Colon
40	chr20:14682000-14688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:14682000-14689800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr20:14682200-14684000	Weak transcription	Colon Smooth Muscle	Colon
43	chr20:14682200-14692200	Weak transcription	Fetal Heart	heart
44	chr20:14682200-14693000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr20:14684000-14684200	Enhancers	Colon Smooth Muscle	Colon
46	chr20:14685000-14686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr20:14685200-14685600	Enhancers	NHEK	skin
48	chr20:14685200-14686000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:14685600-14688800	Weak transcription	NHEK	skin
50	chr20:14686000-14688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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