Variant report

Variant	nsv890865
Chromosome Location	chr8:50456329-50528355
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	CEBPB	chr8:50519786-50519787	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:50496113-50496343	HepG2	liver:	n/a	chr8:50496212-50496223
3	CEBPB	chr8:50523129-50523400	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:50523028-50523398	IMR90	lung:	n/a	chr8:50523032-50523045
5	CEBPB	chr8:50460492-50460666	A549	lung:	n/a	chr8:50460577-50460590 chr8:50460577-50460590
6	CEBPB	chr8:50492081-50492389	HepG2	liver:	n/a	chr8:50492201-50492212
7	CTCF	chr8:50461335-50461394	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr8:50477807-50477872	GM10266	blood:	n/a	n/a
9	CTCF	chr8:50464940-50465090	GM12867	blood:	n/a	n/a
10	CTCF	chr8:50492889-50492986	GM13977	blood:	n/a	n/a
11	CTCF	chr8:50470620-50470770	GM12871	blood:	n/a	n/a
12	E2F4	chr8:50510339-50510445	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr8:50467167-50467274	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:50467107-50467141	MCF10A-Er-Src	breast:	n/a	chr8:50467119-50467128
15	FOS	chr8:50521643-50521803	MCF10A-Er-Src	breast:	n/a	chr8:50521659-50521667 chr8:50521657-50521669 chr8:50521658-50521668 chr8:50521658-50521667 chr8:50521659-50521666
16	FOS	chr8:50471787-50471890	MCF10A-Er-Src	breast:	n/a	chr8:50471828-50471836
17	FOS	chr8:50479076-50479276	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:50505561-50505733	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA3	chr8:50520886-50521529	MCF-7	breast:	n/a	n/a
20	JUN	chr8:50522233-50522352	K562	blood:	n/a	n/a
21	JUND	chr8:50491548-50491708	HepG2	liver:	n/a	chr8:50491608-50491615 chr8:50491608-50491617 chr8:50491606-50491617
22	JUND	chr8:50460924-50461093	HepG2	liver:	n/a	n/a
23	JUND	chr8:50521634-50521829	HepG2	liver:	n/a	chr8:50521659-50521667 chr8:50521657-50521669 chr8:50521657-50521668 chr8:50521658-50521668 chr8:50521658-50521667 chr8:50521659-50521666
24	KAP1	chr8:50509033-50509317	HEK293	kidney:	n/a	n/a
25	KAP1	chr8:50462983-50463385	K562	blood:	n/a	n/a
26	MAFF	chr8:50521276-50521413	HepG2	liver:	n/a	chr8:50521334-50521352
27	MAFF	chr8:50524781-50524881	K562	blood:	n/a	n/a
28	MAFF	chr8:50486358-50486605	HepG2	liver:	n/a	chr8:50486505-50486523
29	MAFF	chr8:50491751-50491808	HepG2	liver:	n/a	n/a
30	MAFF	chr8:50515003-50515008	HepG2	liver:	n/a	n/a
31	MAFF	chr8:50486369-50486569	K562	blood:	n/a	chr8:50486505-50486523
32	MAFF	chr8:50524674-50525008	HepG2	liver:	n/a	n/a
33	MAFK	chr8:50491704-50491904	HepG2	liver:	n/a	n/a
34	MAFK	chr8:50474348-50474476	HepG2	liver:	n/a	n/a
35	MAFK	chr8:50524689-50525018	IMR90	lung:	n/a	n/a
36	MAFK	chr8:50486348-50486690	HepG2	liver:	n/a	n/a
37	MAFK	chr8:50521240-50521420	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
38	MAFK	chr8:50461763-50462000	HepG2	liver:	n/a	n/a
39	MAFK	chr8:50491655-50491895	HepG2	liver:	n/a	n/a
40	MAFK	chr8:50459941-50460164	HepG2	liver:	n/a	chr8:50460009-50460023
41	MAFK	chr8:50524689-50524957	HepG2	liver:	n/a	n/a
42	MAFK	chr8:50487917-50488071	HepG2	liver:	n/a	n/a
43	MAFK	chr8:50521175-50521465	IMR90	lung:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
44	MAFK	chr8:50521184-50521496	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
45	MAFK	chr8:50521241-50521354	K562	blood:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
46	MAFK	chr8:50507513-50507686	HepG2	liver:	n/a	n/a
47	MAFK	chr8:50487891-50488026	HepG2	liver:	n/a	n/a
48	MAFK	chr8:50507607-50507674	HepG2	liver:	n/a	n/a
49	MAFK	chr8:50486454-50486605	K562	blood:	n/a	n/a
50	MAFK	chr8:50522786-50522865	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50494738-50494788	GM19239	blood:	n/a
2	chr8:50494670-50494720	AoSMC	blood vessel:	n/a
3	chr8:50494670-50494720	GM19239	blood:	n/a
4	chr8:50494738-50494788	AG10803	skin:	n/a
5	chr8:50494670-50494720	BJ	skin:	n/a
6	chr8:50494670-50494720	HIPEpiC	eye:	n/a
7	chr8:50494738-50494788	ECC-1	luminal epithelium:	n/a
8	chr8:50494738-50494788	PANC-1	pancreas:	n/a
9	chr8:50494670-50494720	HRE	kidney:	n/a
10	chr8:50494670-50494720	HepG2	liver:	n/a
11	chr8:50494738-50494788	NHBE	bronchial:	n/a
12	chr8:50494670-50494720	Jurkat	blood:	n/a
13	chr8:50494738-50494788	HEEpiC	esophagus:	n/a
14	chr8:50494738-50494788	Jurkat	blood:	n/a
15	chr8:50494670-50494720	LNCaP	prostate:	n/a
16	chr8:50494670-50494720	GM06990	blood:	n/a
17	chr8:50494738-50494788	HAEpiC	amniotic membrane:	n/a
18	chr8:50494738-50494788	BE2_C	brain:	n/a
19	chr8:50494738-50494788	AoSMC	blood vessel:	n/a
20	chr8:50494670-50494720	NT2-D1	testis:	n/a
21	chr8:50494670-50494720	NH-A	brain:	n/a
22	chr8:50494738-50494788	NH-A	brain:	n/a
23	chr8:50494738-50494788	H1-hESC	embryonic stem cell:	embryo
24	chr8:50494670-50494720	PrEC	prostate:	n/a
25	chr8:50494670-50494720	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:50494670-50494720	HUVEC	blood vessel:	n/a
27	chr8:50494738-50494788	A549	lung:	n/a
28	chr8:50494670-50494720	PFSK-1	brain:	n/a
29	chr8:50494670-50494720	NB4	blood:	n/a
30	chr8:50494670-50494720	ovcar-3	ovarian:	n/a
31	chr8:50494670-50494720	AG09319	gingival:	n/a
32	chr8:50494738-50494788	LNCaP	prostate:	n/a
33	chr8:50494738-50494788	HIPEpiC	eye:	n/a
34	chr8:50494670-50494720	Hela-S3	cervix:	n/a
35	chr8:50494670-50494720	HEEpiC	esophagus:	n/a
36	chr8:50494670-50494720	AG04449	skin:	fetal
37	chr8:50494670-50494720	SKMC	muscle:	n/a
38	chr8:50494738-50494788	ovcar-3	ovarian:	n/a
39	chr8:50494670-50494720	HL-60	blood:	n/a
40	chr8:50494738-50494788	BJ	skin:	n/a
41	chr8:50494670-50494720	HAEpiC	amniotic membrane:	n/a
42	chr8:50494670-50494720	GM12878	blood:	n/a
43	chr8:50494738-50494788	ProgFib	skin:	n/a
44	chr8:50494738-50494788	HL-60	blood:	n/a
45	chr8:50494670-50494720	AG04450	lung:	fetal
46	chr8:50494738-50494788	GM06990	blood:	n/a
47	chr8:50494670-50494720	SK-N-SH	brain:	n/a
48	chr8:50494670-50494720	A549	lung:	n/a
49	chr8:50494670-50494720	K562	blood:	n/a
50	chr8:50494670-50494720	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:50456943..50459691-chr8:50460903..50462804,2	MCF-7	breast:
2	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:
3	chr8:50464568..50466500-chr8:50489382..50491798,2	MCF-7	breast:
4	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:
5	chr8:50456943..50459691-chr8:50460903..50462804,2	MCF-7	breast:
6	chr8:50521960..50524416-chr8:50526468..50529383,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253206	TF binding region
ENSG00000253206	CpG island

Extended variants
information (count: 429 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2956826	chr8:50456329-50456330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114843174	chr8:50456352-50456353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539626500	chr8:50456376-50456377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76562584	chr8:50456438-50456439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181814202	chr8:50456479-50456480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371356216	chr8:50456515-50456516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536666432	chr8:50456516-50456517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369992671	chr8:50456559-50456560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557918390	chr8:50456560-50456561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574256272	chr8:50456581-50456582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541757676	chr8:50456677-50456678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559610778	chr8:50456747-50456748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577852342	chr8:50456754-50456755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545175210	chr8:50456761-50456762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563457206	chr8:50456762-50456763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561871863	chr8:50456803-50456804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549110513	chr8:50456817-50456818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573772402	chr8:50456825-50456826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1458566	chr8:50456884-50456885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373839964	chr8:50456897-50456898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543998770	chr8:50456953-50456954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563894546	chr8:50456990-50456991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529545360	chr8:50456991-50456992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565955949	chr8:50457036-50457037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186362546	chr8:50457066-50457067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189589210	chr8:50457085-50457086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182241305	chr8:50457097-50457098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537105029	chr8:50457100-50457101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111785317	chr8:50457108-50457109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144350385	chr8:50457137-50457138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140037594	chr8:50457180-50457181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553280558	chr8:50457230-50457231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149428403	chr8:50457237-50457238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62501264	chr8:50457242-50457243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557085150	chr8:50457255-50457256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575745613	chr8:50457261-50457262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72645977	chr8:50457339-50457340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530931399	chr8:50457357-50457358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57239372	chr8:50457367-50457368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528512072	chr8:50457386-50457387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549515852	chr8:50457412-50457413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188041817	chr8:50457414-50457415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537182810	chr8:50457464-50457465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191134479	chr8:50457473-50457474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73679750	chr8:50457505-50457506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183397143	chr8:50457549-50457550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78410820	chr8:50457663-50457664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530611443	chr8:50457664-50457665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73679751	chr8:50457707-50457708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567228041	chr8:50457715-50457716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50455000-50458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50458000-50459600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:50458400-50459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:50458400-50459000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:50494600-50494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:50494800-50495600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:50494800-50497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:50495200-50495400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr8:50495400-50496400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:50495600-50498200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:50496600-50496800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:50506200-50506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:50516600-50517000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:50516600-50517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:50516600-50517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:50521200-50522000	Enhancers	Fetal Lung	lung
17	chr8:50524000-50524600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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