Variant report

Variant	nsv890867
Chromosome Location	chr8:50469764-50532935
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	chr8:50492081-50492389	HepG2	liver:	n/a	chr8:50492201-50492212
2	CEBPB	chr8:50523129-50523400	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:50496113-50496343	HepG2	liver:	n/a	chr8:50496212-50496223
4	CEBPB	chr8:50523028-50523398	IMR90	lung:	n/a	chr8:50523032-50523045
5	CEBPB	chr8:50519786-50519787	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:50477807-50477872	GM10266	blood:	n/a	n/a
7	CTCF	chr8:50492889-50492986	GM13977	blood:	n/a	n/a
8	CTCF	chr8:50470620-50470770	GM12871	blood:	n/a	n/a
9	CTCF	chr8:50531880-50532030	A549	lung:	n/a	chr8:50531950-50531957
10	E2F4	chr8:50510339-50510445	MCF10A-Er-Src	breast:	n/a	n/a
11	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
12	FOS	chr8:50479076-50479276	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:50471787-50471890	MCF10A-Er-Src	breast:	n/a	chr8:50471828-50471836
14	FOS	chr8:50505561-50505733	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr8:50520886-50521529	MCF-7	breast:	n/a	n/a
16	JUN	chr8:50522233-50522352	K562	blood:	n/a	n/a
17	JUND	chr8:50491548-50491708	HepG2	liver:	n/a	chr8:50491608-50491615 chr8:50491608-50491617 chr8:50491606-50491617
18	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
19	KAP1	chr8:50509033-50509317	HEK293	kidney:	n/a	n/a
20	MAFF	chr8:50486358-50486605	HepG2	liver:	n/a	chr8:50486505-50486523
21	MAFF	chr8:50491751-50491808	HepG2	liver:	n/a	n/a
22	MAFF	chr8:50524674-50525008	HepG2	liver:	n/a	n/a
23	MAFF	chr8:50486369-50486569	K562	blood:	n/a	chr8:50486505-50486523
24	MAFF	chr8:50524781-50524881	K562	blood:	n/a	n/a
25	MAFF	chr8:50515003-50515008	HepG2	liver:	n/a	n/a
26	MAFF	chr8:50521276-50521413	HepG2	liver:	n/a	chr8:50521334-50521352
27	MAFK	chr8:50524752-50524909	K562	blood:	n/a	n/a
28	MAFK	chr8:50486342-50486646	IMR90	lung:	n/a	n/a
29	MAFK	chr8:50521241-50521354	K562	blood:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
30	MAFK	chr8:50486348-50486690	HepG2	liver:	n/a	n/a
31	MAFK	chr8:50491704-50491904	HepG2	liver:	n/a	n/a
32	MAFK	chr8:50524670-50525012	HepG2	liver:	n/a	n/a
33	MAFK	chr8:50524689-50525018	IMR90	lung:	n/a	n/a
34	MAFK	chr8:50491655-50491895	HepG2	liver:	n/a	n/a
35	MAFK	chr8:50522786-50522865	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAFK	chr8:50486454-50486605	K562	blood:	n/a	n/a
37	MAFK	chr8:50488684-50488853	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
38	MAFK	chr8:50524689-50524957	HepG2	liver:	n/a	n/a
39	MAFK	chr8:50521240-50521420	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
40	MAFK	chr8:50487891-50488026	HepG2	liver:	n/a	n/a
41	MAFK	chr8:50507513-50507686	HepG2	liver:	n/a	n/a
42	MAFK	chr8:50521184-50521496	HepG2	liver:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
43	MAFK	chr8:50474348-50474476	HepG2	liver:	n/a	n/a
44	MAFK	chr8:50521175-50521465	IMR90	lung:	n/a	chr8:50521335-50521350 chr8:50521340-50521351
45	MAFK	chr8:50487917-50488071	HepG2	liver:	n/a	n/a
46	MAFK	chr8:50488729-50488935	HepG2	liver:	n/a	chr8:50488785-50488801 chr8:50488785-50488800
47	MAFK	chr8:50507607-50507674	HepG2	liver:	n/a	n/a
48	MAX	chr8:50486126-50486389	NB4	blood:	n/a	chr8:50486219-50486229 chr8:50486258-50486268
49	MAX	chr8:50483495-50483657	NB4	blood:	n/a	n/a
50	MAX	chr8:50486159-50486362	H1-hESC	embryonic stem cell:	n/a	chr8:50486219-50486229 chr8:50486258-50486268

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:50494738-50494788	NT2-D1	testis:	n/a
2	chr8:50494670-50494720	PANC-1	pancreas:	n/a
3	chr8:50494738-50494788	NHBE	bronchial:	n/a
4	chr8:50494738-50494788	Hela-S3	cervix:	n/a
5	chr8:50494738-50494788	GM12878	blood:	n/a
6	chr8:50494670-50494720	T-47D	breast:	n/a
7	chr8:50494670-50494720	Hepatocyte	liver:	n/a
8	chr8:50494738-50494788	AG04450	lung:	fetal
9	chr8:50494670-50494720	AG09319	gingival:	n/a
10	chr8:50494738-50494788	ovcar-3	ovarian:	n/a
11	chr8:50494738-50494788	HNPCEpiC	eye:	n/a
12	chr8:50494670-50494720	H1-hESC	embryonic stem cell:	embryo
13	chr8:50494738-50494788	HCT-116	colon:	n/a
14	chr8:50494670-50494720	MCF-7	breast:	n/a
15	chr8:50494670-50494720	NT2-D1	testis:	n/a
16	chr8:50494670-50494720	HAEpiC	amniotic membrane:	n/a
17	chr8:50494670-50494720	SK-N-SH_RA	brain:	n/a
18	chr8:50494670-50494720	U87	brain:	n/a
19	chr8:50494670-50494720	HL-60	blood:	n/a
20	chr8:50494738-50494788	GM19239	blood:	n/a
21	chr8:50494670-50494720	SKMC	muscle:	n/a
22	chr8:50494670-50494720	HEEpiC	esophagus:	n/a
23	chr8:50494738-50494788	AoSMC	blood vessel:	n/a
24	chr8:50494738-50494788	BJ	skin:	n/a
25	chr8:50494670-50494720	IMR90	lung:	fetal
26	chr8:50494670-50494720	HIPEpiC	eye:	n/a
27	chr8:50494738-50494788	GM06990	blood:	n/a
28	chr8:50494670-50494720	HCM	heart:	n/a
29	chr8:50494738-50494788	U87	brain:	n/a
30	chr8:50494738-50494788	HEEpiC	esophagus:	n/a
31	chr8:50494670-50494720	NH-A	brain:	n/a
32	chr8:50494738-50494788	NB4	blood:	n/a
33	chr8:50494670-50494720	GM19239	blood:	n/a
34	chr8:50494738-50494788	HUVEC	blood vessel:	n/a
35	chr8:50494738-50494788	GM12891	blood:	n/a
36	chr8:50494738-50494788	AG09319	gingival:	n/a
37	chr8:50494738-50494788	PrEC	prostate:	n/a
38	chr8:50494738-50494788	AG04449	skin:	fetal
39	chr8:50494738-50494788	NHDF-neo	bronchial:	n/a
40	chr8:50494670-50494720	HCF	heart:	n/a
41	chr8:50494738-50494788	SK-N-SH	brain:	n/a
42	chr8:50494670-50494720	NHDF-neo	bronchial:	n/a
43	chr8:50494670-50494720	GM12892	blood:	n/a
44	chr8:50494670-50494720	ECC-1	luminal epithelium:	n/a
45	chr8:50494670-50494720	NB4	blood:	n/a
46	chr8:50494738-50494788	GM12892	blood:	n/a
47	chr8:50494670-50494720	Hela-S3	cervix:	n/a
48	chr8:50494738-50494788	Hepatocyte	liver:	n/a
49	chr8:50494738-50494788	SKMC	muscle:	n/a
50	chr8:50494738-50494788	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:50521960..50524416-chr8:50526468..50529383,2	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:

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

Extended variants
information (count: 400 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370597488	chr8:50470633-50470634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548172511	chr8:50470642-50470643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566686092	chr8:50470654-50470655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181426086	chr8:50470655-50470656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140932976	chr8:50470661-50470662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs79997198	chr8:50470662-50470663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144778584	chr8:50470665-50470666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs145812732	chr8:50470680-50470681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376409043	chr8:50470682-50470683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73675914	chr8:50470690-50470691	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554150611	chr8:50470700-50470701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs73675915	chr8:50470702-50470703	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546037845	chr8:50470718-50470719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs75918076	chr8:50470726-50470727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564242061	chr8:50470727-50470728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73675916	chr8:50470729-50470730	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543499525	chr8:50470766-50470767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561780171	chr8:50470770-50470771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182236628	chr8:50471804-50471805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs386725135	chr8:50471810-50471811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs73675919	chr8:50471811-50471812	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539777744	chr8:50471823-50471824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539949032	chr8:50471847-50471848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558773226	chr8:50471860-50471861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549988906	chr8:50494724-50494725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2926099	chr8:50494804-50494805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2956841	chr8:50494851-50494852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2956840	chr8:50494853-50494854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551898832	chr8:50494884-50494885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529404909	chr8:50494935-50494936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs116777275	chr8:50494938-50494939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566074733	chr8:50494955-50494956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184388192	chr8:50494972-50494973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs2960475	chr8:50494990-50494991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2960474	chr8:50495002-50495003	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567019931	chr8:50495007-50495008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369668682	chr8:50495036-50495037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556410178	chr8:50495048-50495049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2956839	chr8:50495054-50495055	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541914830	chr8:50495059-50495060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553545082	chr8:50495064-50495065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572095439	chr8:50495076-50495077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545438202	chr8:50495083-50495084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563713910	chr8:50495084-50495085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531914375	chr8:50495102-50495103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs372074718	chr8:50495153-50495154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543672725	chr8:50495162-50495163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs533848369	chr8:50495171-50495172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562328112	chr8:50495195-50495196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552513075	chr8:50495200-50495201	ZNF genes & repeats 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:16 , 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
13	chr8:50524000-50524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:50529400-50530600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:50530600-50531600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:50531600-50533000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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