Variant report

Variant	nsv515085
Chromosome Location	chr8:50460243-50523243
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	chr8:50496113-50496343	HepG2	liver:	n/a	chr8:50496212-50496223
2	CEBPB	chr8:50519786-50519787	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:50492081-50492389	HepG2	liver:	n/a	chr8:50492201-50492212
4	CEBPB	chr8:50460492-50460666	A549	lung:	n/a	chr8:50460577-50460590 chr8:50460577-50460590
5	CEBPB	chr8:50523028-50523398	IMR90	lung:	n/a	chr8:50523032-50523045
6	CEBPB	chr8:50523129-50523400	HepG2	liver:	n/a	n/a
7	CTCF	chr8:50470620-50470770	GM12871	blood:	n/a	n/a
8	CTCF	chr8:50461335-50461394	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr8:50464940-50465090	GM12867	blood:	n/a	n/a
10	CTCF	chr8:50477807-50477872	GM10266	blood:	n/a	n/a
11	CTCF	chr8:50492889-50492986	GM13977	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	chr8:50479076-50479276	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:50471787-50471890	MCF10A-Er-Src	breast:	n/a	chr8:50471828-50471836
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	chr8:50460924-50461093	HepG2	liver:	n/a	n/a
22	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
23	JUND	chr8:50491548-50491708	HepG2	liver:	n/a	chr8:50491608-50491615 chr8:50491608-50491617 chr8:50491606-50491617
24	KAP1	chr8:50462983-50463385	K562	blood:	n/a	n/a
25	KAP1	chr8:50509033-50509317	HEK293	kidney:	n/a	n/a
26	MAFF	chr8:50491751-50491808	HepG2	liver:	n/a	n/a
27	MAFF	chr8:50486369-50486569	K562	blood:	n/a	chr8:50486505-50486523
28	MAFF	chr8:50486358-50486605	HepG2	liver:	n/a	chr8:50486505-50486523
29	MAFF	chr8:50521276-50521413	HepG2	liver:	n/a	chr8:50521334-50521352
30	MAFF	chr8:50515003-50515008	HepG2	liver:	n/a	n/a
31	MAFK	chr8:50474348-50474476	HepG2	liver:	n/a	n/a
32	MAFK	chr8:50507607-50507674	HepG2	liver:	n/a	n/a
33	MAFK	chr8:50521240-50521420	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
34	MAFK	chr8:50486342-50486646	IMR90	lung:	n/a	n/a
35	MAFK	chr8:50521241-50521354	K562	blood:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
36	MAFK	chr8:50522786-50522865	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr8:50488684-50488853	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
38	MAFK	chr8:50461763-50462000	HepG2	liver:	n/a	n/a
39	MAFK	chr8:50486348-50486690	HepG2	liver:	n/a	n/a
40	MAFK	chr8:50488729-50488935	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
41	MAFK	chr8:50507513-50507686	HepG2	liver:	n/a	n/a
42	MAFK	chr8:50486454-50486605	K562	blood:	n/a	n/a
43	MAFK	chr8:50521184-50521496	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
44	MAFK	chr8:50487917-50488071	HepG2	liver:	n/a	n/a
45	MAFK	chr8:50491655-50491895	HepG2	liver:	n/a	n/a
46	MAFK	chr8:50521175-50521465	IMR90	lung:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
47	MAFK	chr8:50491704-50491904	HepG2	liver:	n/a	n/a
48	MAFK	chr8:50487891-50488026	HepG2	liver:	n/a	n/a
49	MAX	chr8:50486126-50486389	NB4	blood:	n/a	chr8:50486219-50486229 chr8:50486258-50486268
50	MAX	chr8:50483495-50483657	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50494670-50494720	AG04450	lung:	fetal
2	chr8:50494738-50494788	HCM	heart:	n/a
3	chr8:50494670-50494720	AG04450	lung:	fetal
4	chr8:50494738-50494788	HCM	heart:	n/a
5	chr8:50494670-50494720	AG09319	gingival:	n/a
6	chr8:50494670-50494720	NB4	blood:	n/a
7	chr8:50494670-50494720	GM12891	blood:	n/a
8	chr8:50494738-50494788	NH-A	brain:	n/a
9	chr8:50494738-50494788	H1-hESC	embryonic stem cell:	embryo
10	chr8:50494738-50494788	SK-N-SH_RA	brain:	n/a
11	chr8:50494738-50494788	HEEpiC	esophagus:	n/a
12	chr8:50494670-50494720	SAEC	small airway:	n/a
13	chr8:50494738-50494788	MCF10A-Er-Src	breast:	n/a
14	chr8:50494670-50494720	AG09309	skin:	n/a
15	chr8:50494670-50494720	ProgFib	skin:	n/a
16	chr8:50494670-50494720	HCPEpiC	choroid plexus:	n/a
17	chr8:50494738-50494788	GM06990	blood:	n/a
18	chr8:50494670-50494720	AoSMC	blood vessel:	n/a
19	chr8:50494670-50494720	PANC-1	pancreas:	n/a
20	chr8:50494670-50494720	T-47D	breast:	n/a
21	chr8:50494670-50494720	RPTEC	kidney:	n/a
22	chr8:50494738-50494788	AG10803	skin:	n/a
23	chr8:50494738-50494788	AG04450	lung:	fetal
24	chr8:50494670-50494720	LNCaP	prostate:	n/a
25	chr8:50494738-50494788	GM12878	blood:	n/a
26	chr8:50494738-50494788	NB4	blood:	n/a
27	chr8:50494738-50494788	T-47D	breast:	n/a
28	chr8:50494738-50494788	CMK	blood:	n/a
29	chr8:50494738-50494788	ProgFib	skin:	n/a
30	chr8:50494670-50494720	SK-N-SH_RA	brain:	n/a
31	chr8:50494738-50494788	GM19239	blood:	n/a
32	chr8:50494670-50494720	NHBE	bronchial:	n/a
33	chr8:50494670-50494720	U87	brain:	n/a
34	chr8:50494670-50494720	Jurkat	blood:	n/a
35	chr8:50494670-50494720	GM06990	blood:	n/a
36	chr8:50494738-50494788	AG04449	skin:	fetal
37	chr8:50494670-50494720	ovcar-3	ovarian:	n/a
38	chr8:50494670-50494720	IMR90	lung:	fetal
39	chr8:50494670-50494720	AG04449	skin:	fetal
40	chr8:50494670-50494720	BJ	skin:	n/a
41	chr8:50494738-50494788	SK-N-SH	brain:	n/a
42	chr8:50494738-50494788	ovcar-3	ovarian:	n/a
43	chr8:50494670-50494720	HRE	kidney:	n/a
44	chr8:50494670-50494720	HMEC	breast:	n/a
45	chr8:50494670-50494720	HepG2	liver:	n/a
46	chr8:50494738-50494788	Caco-2	colon:	n/a
47	chr8:50494670-50494720	H1-hESC	embryonic stem cell:	embryo
48	chr8:50494738-50494788	SKMC	muscle:	n/a
49	chr8:50494738-50494788	NHBE	bronchial:	n/a
50	chr8:50494670-50494720	HCM	heart:	n/a

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

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

Extended variants
information (count: 285 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573887693	chr8:50467027-50467028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184075011	chr8:50467030-50467031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559571517	chr8:50467047-50467048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs73680243	chr8:50467049-50467050	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545043105	chr8:50467059-50467060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564418151	chr8:50467064-50467065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113177661	chr8:50467068-50467069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2926092	chr8:50467115-50467116	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568294254	chr8:50467117-50467118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73680244	chr8:50467118-50467119	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556386936	chr8:50467119-50467120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547534830	chr8:50467120-50467121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs139696052	chr8:50467121-50467122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374186765	chr8:50467131-50467132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs149758998	chr8:50467140-50467141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79862011	chr8:50467168-50467169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370727668	chr8:50467219-50467220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537390893	chr8:50467234-50467235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555625268	chr8:50467239-50467240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs145708668	chr8:50467240-50467241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534861877	chr8:50467263-50467264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs114535689	chr8:50469266-50469267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566782157	chr8:50469269-50469270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185046521	chr8:50469292-50469293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553009024	chr8:50469308-50469309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577828563	chr8:50469374-50469375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370597488	chr8:50470633-50470634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548172511	chr8:50470642-50470643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566686092	chr8:50470654-50470655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs181426086	chr8:50470655-50470656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140932976	chr8:50470661-50470662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs79997198	chr8:50470662-50470663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144778584	chr8:50470665-50470666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145812732	chr8:50470680-50470681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376409043	chr8:50470682-50470683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73675914	chr8:50470690-50470691	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554150611	chr8:50470700-50470701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73675915	chr8:50470702-50470703	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546037845	chr8:50470718-50470719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75918076	chr8:50470726-50470727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs564242061	chr8:50470727-50470728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73675916	chr8:50470729-50470730	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543499525	chr8:50470766-50470767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561780171	chr8:50470770-50470771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182236628	chr8:50471804-50471805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs386725135	chr8:50471810-50471811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs73675919	chr8:50471811-50471812	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539777744	chr8:50471823-50471824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539949032	chr8:50471847-50471848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs558773226	chr8:50471860-50471861	Inactive region	TF binding region	1 gene(s)	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50494600-50494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:50494800-50495600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:50494800-50497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:50495200-50495400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr8:50495400-50496400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:50495600-50498200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:50496600-50496800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:50506200-50506600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:50516600-50517000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:50516600-50517000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:50516600-50517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:50521200-50522000	Enhancers	Fetal Lung	lung

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