Variant report

Variant	nsv524881
Chromosome Location	chr6:142376451-142389382
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	BATF	chr6:142376411-142376651	GM12878	blood:	n/a	n/a
2	CEBPB	chr6:142376723-142377026	IMR90	lung:	n/a	chr6:142376854-142376867 chr6:142376854-142376867
3	CTCF	chr6:142384401-142384464	GM13977	blood:	n/a	n/a
4	E2F4	chr6:142379532-142379557	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr6:142376434-142376649	GM12878	blood:	n/a	n/a
6	EP300	chr6:142376484-142376688	GM12878	blood:	n/a	n/a
7	EP300	chr6:142389291-142389350	K562	blood:	n/a	n/a
8	ESR1	chr6:142388653-142389014	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr6:142388661-142389117	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr6:142388663-142388998	ECC-1	luminal epithelium:	n/a	n/a
11	JUN	chr6:142384124-142384226	HepG2	liver:	n/a	chr6:142384168-142384177 chr6:142384164-142384177
12	JUND	chr6:142384076-142384253	HepG2	liver:	n/a	chr6:142384168-142384177
13	MAFF	chr6:142379695-142380010	HepG2	liver:	n/a	chr6:142379855-142379873
14	MAFK	chr6:142379834-142379927	K562	blood:	n/a	chr6:142379859-142379873 chr6:142379856-142379871 chr6:142379856-142379872 chr6:142379861-142379872 chr6:142379860-142379871 chr6:142379861-142379872
15	MAFK	chr6:142379713-142380007	HepG2	liver:	n/a	chr6:142379859-142379873 chr6:142379856-142379871 chr6:142379856-142379872 chr6:142379861-142379872 chr6:142379860-142379871 chr6:142379861-142379872
16	MAFK	chr6:142388127-142388342	HepG2	liver:	n/a	chr6:142388268-142388282
17	MAFK	chr6:142379730-142379956	HepG2	liver:	n/a	chr6:142379859-142379873 chr6:142379856-142379871 chr6:142379856-142379872 chr6:142379861-142379872 chr6:142379860-142379871 chr6:142379861-142379872
18	NFYB	chr6:142376440-142376715	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:142380873-142381096	ProgFib	skin:	n/a	n/a
20	POLR2A	chr6:142382186-142382362	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:142381065-142381125	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:142384410-142384475	GM12878	blood:	n/a	n/a
23	RFX5	chr6:142388284-142388474	K562	blood:	n/a	n/a
24	SMC3	chr6:142376661-142376668	GM12878	blood:	n/a	n/a
25	STAT3	chr6:142380618-142380769	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr6:142379279-142379789	SK-N-SH	brain:	n/a	n/a
27	ZNF143	chr6:142379388-142379397	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:142379089..142381222-chr6:142382597..142385230,2	K562	blood:
2	chr6:142388215..142391078-chr6:142393829..142396159,2	K562	blood:
3	chr6:142382809..142385096-chr6:142386866..142388393,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJE1-6	chr6:142383854-142384190	NONHSAT115302

Variant related genes	Relation type
ENSG00000270983	TF binding region
ENSG00000270983	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:289 , 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	rs4896572	chr6:142376451-142376452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371359990	chr6:142376455-142376456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138677418	chr6:142376480-142376481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9484590	chr6:142376518-142376519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192848982	chr6:142376539-142376540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552193407	chr6:142376638-142376639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530046307	chr6:142376669-142376670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548132247	chr6:142376710-142376711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146560447	chr6:142376711-142376712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184803496	chr6:142376725-142376726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369900983	chr6:142376744-142376745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534895762	chr6:142376767-142376768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549981424	chr6:142376770-142376771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571331960	chr6:142376823-142376824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538798321	chr6:142376859-142376860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189268111	chr6:142376870-142376871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569675821	chr6:142376918-142376919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565735455	chr6:142376927-142376928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536254151	chr6:142376955-142376956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554599890	chr6:142376964-142376965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568214317	chr6:142376976-142376977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576847061	chr6:142376994-142376995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543738210	chr6:142377044-142377045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142303292	chr6:142377057-142377058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113739216	chr6:142377070-142377071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577385777	chr6:142377075-142377076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9484591	chr6:142377095-142377096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs9496241	chr6:142377132-142377133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs151274282	chr6:142377149-142377150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181005502	chr6:142377167-142377168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565858245	chr6:142377180-142377181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563325792	chr6:142377181-142377182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374893359	chr6:142377232-142377233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116013411	chr6:142377235-142377236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534478340	chr6:142377239-142377240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140267637	chr6:142377342-142377343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371244142	chr6:142377353-142377354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111475723	chr6:142377402-142377403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570764544	chr6:142377428-142377429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183619662	chr6:142377431-142377432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536341925	chr6:142377563-142377564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554635295	chr6:142377570-142377571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557569225	chr6:142377638-142377639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569692850	chr6:142377643-142377644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373791228	chr6:142377648-142377649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188995775	chr6:142377672-142377673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4407737	chr6:142377700-142377701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577420303	chr6:142377708-142377709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374176722	chr6:142377728-142377729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534953316	chr6:142377743-142377744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142362200-142376600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:142376600-142377400	Enhancers	Fetal Stomach	stomach
3	chr6:142376600-142377400	Enhancers	HMEC	breast
4	chr6:142376600-142377600	Enhancers	Stomach Smooth Muscle	stomach
5	chr6:142376600-142377600	Enhancers	NHEK	skin
6	chr6:142376600-142377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:142377600-142378000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:142377800-142382000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:142378000-142378200	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:142378200-142379600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:142379000-142379200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:142379200-142379400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:142379200-142379600	Active TSS	NHDF-Ad	bronchial
14	chr6:142379400-142381000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:142379600-142379800	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:142379600-142379800	Flanking Active TSS	NHDF-Ad	bronchial
17	chr6:142379800-142380400	Enhancers	NHDF-Ad	bronchial
18	chr6:142380400-142381600	Weak transcription	NHDF-Ad	bronchial
19	chr6:142381000-142382000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:142381800-142382000	Enhancers	NHDF-Ad	bronchial

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