Variant report

Variant	nsv1058887
Chromosome Location	chr20:14080114-14173534
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	chr20:14122927-14123102	HepG2	liver:	n/a	n/a
2	ATF3	chr20:14122829-14123179	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr20:14097877-14098165	HepG2	liver:	n/a	chr20:14097992-14098003 chr20:14097994-14098005 chr20:14097989-14098006 chr20:14097992-14098005
4	CEBPB	chr20:14105734-14106009	HepG2	liver:	n/a	chr20:14105876-14105887
5	CEBPB	chr20:14135021-14135123	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr20:14116246-14116247	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr20:14131781-14132050	HepG2	liver:	n/a	chr20:14131944-14131955
8	CEBPB	chr20:14171633-14171969	MCF-7	breast:	n/a	chr20:14171773-14171784
9	CEBPB	chr20:14160626-14160797	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:14169158-14169396	HepG2	liver:	n/a	chr20:14169264-14169275 chr20:14169263-14169276
11	CEBPB	chr20:14108415-14108686	HepG2	liver:	n/a	chr20:14108538-14108549
12	CEBPB	chr20:14163645-14163722	HepG2	liver:	n/a	n/a
13	CEBPB	chr20:14131803-14132014	A549	lung:	n/a	chr20:14131944-14131955
14	CEBPB	chr20:14171621-14171896	MCF-7	breast:	n/a	chr20:14171773-14171784
15	CEBPB	chr20:14123644-14124346	Hela-S3	cervix:	n/a	chr20:14124065-14124076 chr20:14123684-14123701
16	CEBPB	chr20:14116161-14116451	A549	lung:	n/a	chr20:14116272-14116283
17	CEBPB	chr20:14080050-14080301	HepG2	liver:	n/a	chr20:14080169-14080180
18	CEBPB	chr20:14108515-14108599	Hela-S3	cervix:	n/a	chr20:14108538-14108549
19	CEBPB	chr20:14080075-14080264	A549	lung:	n/a	chr20:14080169-14080180
20	CEBPB	chr20:14171624-14171932	HepG2	liver:	n/a	chr20:14171773-14171784
21	CEBPB	chr20:14141467-14141718	HepG2	liver:	n/a	chr20:14141540-14141551
22	CEBPB	chr20:14108364-14108626	A549	lung:	n/a	chr20:14108538-14108549
23	CEBPB	chr20:14163996-14164193	HepG2	liver:	n/a	chr20:14164119-14164130
24	CEBPB	chr20:14123915-14124258	HepG2	liver:	n/a	chr20:14124065-14124076
25	CEBPB	chr20:14116179-14116408	HepG2	liver:	n/a	chr20:14116272-14116283
26	CEBPB	chr20:14123863-14124264	A549	lung:	n/a	chr20:14124065-14124076
27	CEBPB	chr20:14131921-14131987	Hela-S3	cervix:	n/a	chr20:14131944-14131955
28	CEBPB	chr20:14123882-14124277	IMR90	lung:	n/a	chr20:14124065-14124076
29	CEBPB	chr20:14171705-14171862	A549	lung:	n/a	chr20:14171773-14171784
30	CHD1	chr20:14090273-14090279	GM12878	blood:	n/a	n/a
31	CTCF	chr20:14170545-14170719	MCF-7	breast:	n/a	n/a
32	CTCF	chr20:14170599-14170692	ProgFib	skin:	n/a	n/a
33	CTCF	chr20:14170540-14170690	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr20:14170640-14170790	NHEK	skin:	n/a	n/a
35	CTCF	chr20:14170519-14170755	LNCaP	prostate:	n/a	n/a
36	CTCF	chr20:14122860-14123010	NHEK	skin:	n/a	n/a
37	CTCF	chr20:14170520-14170670	GM12872	blood:	n/a	n/a
38	CTCF	chr20:14122760-14122910	A549	lung:	n/a	n/a
39	CTCF	chr20:14170580-14170730	GM12871	blood:	n/a	n/a
40	CTCF	chr20:14144959-14145005	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr20:14170540-14170690	SAEC	small airway:	n/a	n/a
42	CTCF	chr20:14122814-14123013	A549	lung:	n/a	n/a
43	CTCF	chr20:14122829-14123067	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr20:14122860-14123010	RPTEC	kidney:	n/a	n/a
45	CTCF	chr20:14122820-14123051	HepG2	liver:	n/a	n/a
46	CTCF	chr20:14170540-14170690	BE2_C	brain:	n/a	n/a
47	CTCF	chr20:14170620-14170770	HMEC	breast:	n/a	n/a
48	CTCF	chr20:14170520-14170670	GM12868	blood:	n/a	n/a
49	CTCF	chr20:14122820-14122970	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:14122860-14123010	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14103143..14106631-chr20:14107434..14111126,4	MCF-7	breast:
2	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
3	chr20:14122826..14123367-chr20:15689798..15690310,2	MCF-7	breast:
4	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
5	chr20:14170212..14170967-chr20:14245501..14246136,3	MCF-7	breast:
6	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:
7	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:

Variant related genes	Relation type
AIMP1P1	TF binding region
ENSG00000234187	chromatin interactions

Extended variants
information (count: 1220 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569670718	chr20:14086916-14086917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547699112	chr20:14086917-14086918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188864234	chr20:14087008-14087009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553865994	chr20:14087011-14087012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375310093	chr20:14087049-14087050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116028270	chr20:14087147-14087148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566016680	chr20:14087153-14087154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549658238	chr20:14094418-14094419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568412882	chr20:14094440-14094441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189171805	chr20:14094460-14094461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527990979	chr20:14094480-14094481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181563079	chr20:14094524-14094525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200224981	chr20:14094594-14094595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537664830	chr20:14094618-14094619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531968918	chr20:14094629-14094630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573602404	chr20:14094639-14094640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551988707	chr20:14094653-14094654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150668342	chr20:14094837-14094838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73273434	chr20:14094886-14094887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185730042	chr20:14094958-14094959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13039387	chr20:14094985-14094986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13039513	chr20:14094986-14094987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557948945	chr20:14095052-14095053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369086500	chr20:14095097-14095098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567511213	chr20:14095103-14095104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548027303	chr20:14095111-14095112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570956332	chr20:14095170-14095171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147911588	chr20:14095176-14095177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556087136	chr20:14095177-14095178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113521463	chr20:14095318-14095319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544841329	chr20:14095354-14095355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558436375	chr20:14095464-14095465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572127518	chr20:14095566-14095567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540723092	chr20:14095567-14095568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560949290	chr20:14095675-14095676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36006042	chr20:14095708-14095709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6042539	chr20:14095733-14095734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141621118	chr20:14095775-14095776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559031777	chr20:14095821-14095822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563207480	chr20:14095850-14095851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144672622	chr20:14095868-14095869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181507385	chr20:14095874-14095875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76590801	chr20:14095889-14095890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565286174	chr20:14095897-14095898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186331847	chr20:14095931-14095932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547614491	chr20:14095988-14095989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191181667	chr20:14095995-14095996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545226276	chr20:14096006-14096007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138013628	chr20:14096022-14096023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34995826	chr20:14096034-14096035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14086800-14087200	ZNF genes & repeats	Spleen	Spleen
2	chr20:14094400-14094800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:14094800-14095200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:14094800-14098000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr20:14098000-14099000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr20:14098400-14099000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:14107600-14108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:14107800-14108800	Enhancers	Dnd41	blood
9	chr20:14119800-14120000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:14120000-14123600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:14120800-14121200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr20:14121200-14121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:14121600-14121800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr20:14121800-14123000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:14122600-14123400	Enhancers	Fetal Intestine Small	intestine
16	chr20:14122600-14124000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr20:14122600-14124400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:14122800-14123200	Enhancers	Brain Anterior Caudate	brain
19	chr20:14122800-14124200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:14122800-14124600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:14122800-14124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:14123000-14123200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:14123000-14123200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr20:14123000-14123200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:14123000-14123200	Enhancers	Brain Cingulate Gyrus	brain
26	chr20:14123000-14123200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr20:14123000-14123200	Enhancers	Fetal Intestine Large	intestine
28	chr20:14123000-14123200	Enhancers	Gastric	stomach
29	chr20:14123000-14123200	Enhancers	Stomach Smooth Muscle	stomach
30	chr20:14123000-14123400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr20:14123000-14124000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr20:14123000-14124200	Enhancers	Stomach Mucosa	stomach
33	chr20:14123000-14124400	Enhancers	Hela-S3	cervix
34	chr20:14123200-14123800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr20:14123200-14124200	Weak transcription	Fetal Intestine Large	intestine
36	chr20:14123200-14124400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:14123200-14125400	Weak transcription	Gastric	stomach
38	chr20:14123200-14129600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr20:14123400-14123800	Weak transcription	Fetal Intestine Small	intestine
40	chr20:14123400-14124400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr20:14123600-14124600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr20:14123600-14124600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr20:14123600-14126400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:14123800-14124400	Enhancers	HMEC	breast
45	chr20:14123800-14125600	Enhancers	Fetal Intestine Small	intestine
46	chr20:14124000-14124200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:14124000-14124400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr20:14124000-14124400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:14124000-14124400	Enhancers	HSMMtube	muscle
50	chr20:14124200-14125600	Enhancers	Fetal Intestine Large	intestine

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