Variant report

Variant	nsv585438
Chromosome Location	chr20:14054163-14171905
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	BRCA1	chr20:14069992-14070033	GM12878	blood:	n/a	n/a
4	CEBPB	chr20:14171705-14171862	A549	lung:	n/a	chr20:14171773-14171784
5	CEBPB	chr20:14123915-14124258	HepG2	liver:	n/a	chr20:14124065-14124076
6	CEBPB	chr20:14131921-14131987	Hela-S3	cervix:	n/a	chr20:14131944-14131955
7	CEBPB	chr20:14163645-14163722	HepG2	liver:	n/a	n/a
8	CEBPB	chr20:14131781-14132050	HepG2	liver:	n/a	chr20:14131944-14131955
9	CEBPB	chr20:14123863-14124264	A549	lung:	n/a	chr20:14124065-14124076
10	CEBPB	chr20:14116179-14116408	HepG2	liver:	n/a	chr20:14116272-14116283
11	CEBPB	chr20:14171624-14171932	HepG2	liver:	n/a	chr20:14171773-14171784
12	CEBPB	chr20:14123882-14124277	IMR90	lung:	n/a	chr20:14124065-14124076
13	CEBPB	chr20:14097877-14098165	HepG2	liver:	n/a	chr20:14097992-14098003 chr20:14097994-14098005 chr20:14097989-14098006 chr20:14097992-14098005
14	CEBPB	chr20:14160626-14160797	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:14105734-14106009	HepG2	liver:	n/a	chr20:14105876-14105887
16	CEBPB	chr20:14080050-14080301	HepG2	liver:	n/a	chr20:14080169-14080180
17	CEBPB	chr20:14169158-14169396	HepG2	liver:	n/a	chr20:14169264-14169275 chr20:14169263-14169276
18	CEBPB	chr20:14108415-14108686	HepG2	liver:	n/a	chr20:14108538-14108549
19	CEBPB	chr20:14163996-14164193	HepG2	liver:	n/a	chr20:14164119-14164130
20	CEBPB	chr20:14171621-14171896	MCF-7	breast:	n/a	chr20:14171773-14171784
21	CEBPB	chr20:14141467-14141718	HepG2	liver:	n/a	chr20:14141540-14141551
22	CEBPB	chr20:14131803-14132014	A549	lung:	n/a	chr20:14131944-14131955
23	CEBPB	chr20:14108364-14108626	A549	lung:	n/a	chr20:14108538-14108549
24	CEBPB	chr20:14116161-14116451	A549	lung:	n/a	chr20:14116272-14116283
25	CEBPB	chr20:14080075-14080264	A549	lung:	n/a	chr20:14080169-14080180
26	CEBPB	chr20:14171633-14171969	MCF-7	breast:	n/a	chr20:14171773-14171784
27	CEBPB	chr20:14123644-14124346	Hela-S3	cervix:	n/a	chr20:14124065-14124076 chr20:14123684-14123701
28	CEBPB	chr20:14116246-14116247	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr20:14108515-14108599	Hela-S3	cervix:	n/a	chr20:14108538-14108549
30	CEBPB	chr20:14135021-14135123	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr20:14090273-14090279	GM12878	blood:	n/a	n/a
32	CTCF	chr20:14122860-14123010	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr20:14122820-14122970	BE2_C	brain:	n/a	n/a
34	CTCF	chr20:14122860-14123010	AG09319	gingival:	n/a	n/a
35	CTCF	chr20:14122880-14123030	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr20:14122840-14122990	GM12873	blood:	n/a	n/a
37	CTCF	chr20:14122817-14123050	GM19238	blood:	n/a	n/a
38	CTCF	chr20:14122880-14123030	AG10803	skin:	n/a	n/a
39	CTCF	chr20:14122860-14123010	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr20:14122880-14123030	HEK293	kidney:	n/a	n/a
41	CTCF	chr20:14122760-14122910	NHEK	skin:	n/a	n/a
42	CTCF	chr20:14170502-14170780	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr20:14170320-14170470	HVMF	connective:	n/a	n/a
44	CTCF	chr20:14170620-14170770	NHEK	skin:	n/a	n/a
45	CTCF	chr20:14122802-14123071	MCF-7	breast:	n/a	n/a
46	CTCF	chr20:14170700-14170850	HAc	cerebellar:	n/a	n/a
47	CTCF	chr20:14170520-14170670	BJ	skin:	n/a	n/a
48	CTCF	chr20:14144959-14145005	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr20:14122640-14122790	HAc	cerebellar:	n/a	n/a
50	CTCF	chr20:14122860-14123010	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14122826..14123367-chr20:15689798..15690310,2	MCF-7	breast:
2	chr20:14170212..14170967-chr20:14245501..14246136,3	MCF-7	breast:
3	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:
4	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
5	chr20:14051111..14053111-chr20:14053763..14055640,2	K562	blood:
6	chr20:14103143..14106631-chr20:14107434..14111126,4	MCF-7	breast:
7	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
8	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: 1544 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1544 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141431544	chr20:14062014-14062015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563510053	chr20:14062120-14062121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3121496	chr20:14062144-14062145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528208145	chr20:14062192-14062193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548234755	chr20:14062226-14062227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35202806	chr20:14062258-14062259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188757715	chr20:14062334-14062335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376934468	chr20:14062342-14062343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2423771	chr20:14062399-14062400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2995908	chr20:14066047-14066048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533262082	chr20:14066105-14066106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150922133	chr20:14066106-14066107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142074161	chr20:14066122-14066123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373716886	chr20:14066129-14066130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35070683	chr20:14066168-14066169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371691537	chr20:14066229-14066230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187016452	chr20:14066252-14066253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2990505	chr20:14066276-14066277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200593020	chr20:14066373-14066374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371136884	chr20:14066408-14066409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535164306	chr20:14066426-14066427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557665951	chr20:14066478-14066479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201578739	chr20:14066536-14066537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192790711	chr20:14066543-14066544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530109376	chr20:14066616-14066617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539937529	chr20:14066629-14066630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6135057	chr20:14066662-14066663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13040893	chr20:14066789-14066790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116696698	chr20:14066797-14066798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13040611	chr20:14066821-14066822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145821607	chr20:14066842-14066843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114420533	chr20:14066848-14066849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376293280	chr20:14066911-14066912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562004348	chr20:14066961-14066962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182375487	chr20:14067003-14067004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138719833	chr20:14067111-14067112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189061743	chr20:14067116-14067117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6042519	chr20:14067117-14067118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6042520	chr20:14067122-14067123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533500599	chr20:14067126-14067127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555544140	chr20:14067127-14067128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373086347	chr20:14067159-14067160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546751194	chr20:14067179-14067180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6042521	chr20:14067240-14067241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566864086	chr20:14067283-14067284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376579587	chr20:14067297-14067298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528274617	chr20:14067337-14067338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6042522	chr20:14067338-14067339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549392001	chr20:14067434-14067435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569220977	chr20:14067451-14067452	Enhancers 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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14062000-14062400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr20:14066000-14074400	Weak transcription	Ovary	ovary
3	chr20:14067200-14067600	Enhancers	Fetal Intestine Large	intestine
4	chr20:14073000-14073200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr20:14073200-14073800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr20:14073800-14074000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr20:14073800-14075400	Enhancers	Stomach Mucosa	stomach
8	chr20:14074000-14074200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:14074200-14075000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr20:14075000-14076600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr20:14086800-14087200	ZNF genes & repeats	Spleen	Spleen
12	chr20:14094400-14094800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr20:14094800-14095200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:14094800-14098000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:14098000-14099000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr20:14098400-14099000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:14107600-14108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:14107800-14108800	Enhancers	Dnd41	blood
19	chr20:14119800-14120000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:14120000-14123600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:14120800-14121200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr20:14121200-14121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr20:14121600-14121800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr20:14121800-14123000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr20:14122600-14123400	Enhancers	Fetal Intestine Small	intestine
26	chr20:14122600-14124000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr20:14122600-14124400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:14122800-14123200	Enhancers	Brain Anterior Caudate	brain
29	chr20:14122800-14124200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:14122800-14124600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:14122800-14124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr20:14123000-14123200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr20:14123000-14123200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr20:14123000-14123200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:14123000-14123200	Enhancers	Brain Cingulate Gyrus	brain
36	chr20:14123000-14123200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr20:14123000-14123200	Enhancers	Fetal Intestine Large	intestine
38	chr20:14123000-14123200	Enhancers	Gastric	stomach
39	chr20:14123000-14123200	Enhancers	Stomach Smooth Muscle	stomach
40	chr20:14123000-14123400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr20:14123000-14124000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr20:14123000-14124200	Enhancers	Stomach Mucosa	stomach
43	chr20:14123000-14124400	Enhancers	Hela-S3	cervix
44	chr20:14123200-14123800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr20:14123200-14124200	Weak transcription	Fetal Intestine Large	intestine
46	chr20:14123200-14124400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr20:14123200-14125400	Weak transcription	Gastric	stomach
48	chr20:14123200-14129600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr20:14123400-14123800	Weak transcription	Fetal Intestine Small	intestine
50	chr20:14123400-14124400	Enhancers	Pancreatic Islets	Pancreatic Islet

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