Variant report

Variant	nsv969419
Chromosome Location	chr6:74082277-74086772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:74082152-74082491	K562	blood:	n/a	chr6:74082316-74082327 chr6:74082315-74082328
2	CEBPB	chr6:74082184-74082446	HepG2	liver:	n/a	chr6:74082316-74082327 chr6:74082315-74082328
3	CEBPB	chr6:74084300-74084444	HepG2	liver:	n/a	chr6:74084335-74084346
4	CTCF	chr6:74082893-74083027	T-47D	breast:	n/a	n/a
5	EP300	chr6:74082753-74082922	GM12878	blood:	n/a	n/a
6	GABPA	chr6:74082946-74083041	HepG2	liver:	n/a	n/a
7	GATA2	chr6:74082550-74083066	K562	blood:	n/a	n/a
8	HEY1	chr6:74082696-74083079	K562	blood:	n/a	n/a
9	HEY1	chr6:74082777-74083084	HepG2	liver:	n/a	n/a
10	HEY1	chr6:74082687-74083118	K562	blood:	n/a	n/a
11	HEY1	chr6:74082937-74083049	HepG2	liver:	n/a	n/a
12	JUN	chr6:74082643-74082669	K562	blood:	n/a	n/a
13	MYC	chr6:74083036-74083087	MCF-7	breast:	n/a	n/a
14	MYC	chr6:74082950-74083021	MCF-7	breast:	n/a	n/a
15	PBX3	chr6:74085994-74086104	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:74082842-74083053	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr6:74082891-74083051	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:74082635-74083161	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr6:74082941-74083034	ProgFib	skin:	n/a	n/a
20	POLR2A	chr6:74082910-74083035	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:74082879-74083096	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr6:74082801-74083312	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:74082681-74083117	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:74082911-74083063	A549	lung:	n/a	n/a
25	POLR2A	chr6:74082712-74083095	GM12892	blood:	n/a	n/a
26	POLR2A	chr6:74082992-74083157	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:74082799-74083258	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:74082889-74083044	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:74082990-74083130	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:74082675-74082843	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:74082655-74083118	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:74082752-74083150	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr6:74082891-74083039	A549	lung:	n/a	n/a
34	POLR2A	chr6:74082757-74083286	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:74082989-74083164	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:74082727-74083141	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr6:74082891-74083222	A549	lung:	n/a	n/a
38	POLR2A	chr6:74082712-74083072	GM12891	blood:	n/a	n/a
39	POLR2A	chr6:74082669-74083134	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:74082744-74083268	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:74082671-74083101	GM12891	blood:	n/a	n/a
42	POLR2A	chr6:74082635-74083308	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:74082623-74083069	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:74082957-74083026	A549	lung:	n/a	n/a
45	POLR2A	chr6:74082900-74083041	HepG2	liver:	n/a	n/a
46	POLR2A	chr6:74082690-74083094	GM12891	blood:	n/a	n/a
47	POLR2A	chr6:74082891-74083112	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:74082950-74083033	A549	lung:	n/a	n/a
49	POLR2A	chr6:74082812-74083232	K562	blood:	n/a	n/a
50	POLR2A	chr6:74082771-74082977	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
2	chr6:74084069..74086413-chr6:74169197..74171825,2	K562	blood:
3	chr6:74085897..74088755-chr6:74088987..74091763,2	K562	blood:
4	chr6:74075299..74077290-chr6:74080280..74082342,2	MCF-7	breast:
5	chr6:74083446..74085869-chr6:74096172..74099049,2	K562	blood:

No data

Variant related genes	Relation type
OOEP	TF binding region
RPL39P3	TF binding region
ENSG00000234882	chromatin interactions
ENSG00000135297	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77105169	chr6:74082363-74082364	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192854123	chr6:74082371-74082372	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs28433292	chr6:74082433-74082434	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9350494	chr6:74082446-74082447	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368405830	chr6:74082479-74082480	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541961364	chr6:74082497-74082498	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554027299	chr6:74082509-74082510	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377370949	chr6:74082530-74082531	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560282922	chr6:74082531-74082532	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17756210	chr6:74082552-74082553	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546563175	chr6:74082558-74082559	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117163087	chr6:74082598-74082599	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200785849	chr6:74082626-74082627	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371058661	chr6:74082631-74082632	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1141850	chr6:74082649-74082650	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1141849	chr6:74082650-74082651	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1141848	chr6:74082652-74082653	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11542109	chr6:74082657-74082658	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571533335	chr6:74082717-74082718	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144472831	chr6:74082729-74082730	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139201300	chr6:74082730-74082731	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10494	chr6:74082836-74082837	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376526442	chr6:74082864-74082865	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568931931	chr6:74082904-74082905	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9766758	chr6:74082905-74082906	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536341755	chr6:74082922-74082923	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs15657	chr6:74082938-74082939	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146419804	chr6:74082950-74082951	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183555492	chr6:74082955-74082956	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1803400	chr6:74082967-74082968	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373802010	chr6:74082974-74082975	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11539501	chr6:74082984-74082985	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375208703	chr6:74082997-74082998	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs140831942	chr6:74083021-74083022	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs188039043	chr6:74083029-74083030	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs577014011	chr6:74083088-74083089	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs544362525	chr6:74083092-74083093	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556332252	chr6:74083124-74083125	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367974784	chr6:74083129-74083130	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192830814	chr6:74083149-74083150	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541899925	chr6:74083156-74083157	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370789924	chr6:74083161-74083162	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564166805	chr6:74083172-74083173	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs531461429	chr6:74083186-74083187	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374150073	chr6:74083201-74083202	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs560671657	chr6:74083215-74083216	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs572316085	chr6:74083260-74083261	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs546200049	chr6:74083288-74083289	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564984586	chr6:74083308-74083309	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546898103	chr6:74083311-74083312	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74077600-74084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:74082200-74082600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74082600-74084000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:74084000-74085200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:74084600-74085000	Enhancers	HepG2	liver

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