Variant report

Variant	nsv981179
Chromosome Location	chr6:118317043-118324199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:118322690-118322716	ProgFib	skin:	n/a	n/a
2	CTCF	chr6:118317533-118317569	GM10266	blood:	n/a	n/a
3	CTCF	chr6:118320046-118320185	T-47D	breast:	n/a	n/a
4	GATA2	chr6:118320037-118320409	K562	blood:	n/a	n/a
5	HEY1	chr6:118320393-118320634	HepG2	liver:	n/a	n/a
6	HEY1	chr6:118320051-118320559	K562	blood:	n/a	n/a
7	POLR2A	chr6:118320194-118320729	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:118320200-118320670	GM12891	blood:	n/a	n/a
9	POLR2A	chr6:118320023-118320812	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:118320086-118320342	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr6:118320119-118320690	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:118320030-118320778	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:118320061-118320758	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:118320041-118320798	GM12892	blood:	n/a	n/a
15	POLR2A	chr6:118320202-118320598	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:118320116-118320426	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr6:118320109-118320771	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:118320086-118320624	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:118320423-118320687	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:118319987-118320841	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:118320106-118320812	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:118320105-118320782	GM12891	blood:	n/a	n/a
23	SIN3AK20	chr6:118320051-118320185	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr6:118320014-118320219	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZBTB33	chr6:118319907-118320776	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000230202	TF binding region

Extended variants
information (count: 318 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547050179	chr6:118317076-118317077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17079621	chr6:118317155-118317156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193288484	chr6:118317164-118317165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550508063	chr6:118317241-118317242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182491745	chr6:118317257-118317258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539257376	chr6:118317281-118317282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186821552	chr6:118317301-118317302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79493899	chr6:118317315-118317316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533675817	chr6:118317331-118317332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191651389	chr6:118317332-118317333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147311293	chr6:118317333-118317334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536304134	chr6:118317349-118317350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537797359	chr6:118317435-118317436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557699576	chr6:118317515-118317516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575977569	chr6:118317539-118317540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546443811	chr6:118317554-118317555	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs116068193	chr6:118317568-118317569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375745872	chr6:118317590-118317591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148348264	chr6:118317625-118317626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562208887	chr6:118317677-118317678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141700179	chr6:118317687-118317688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372822399	chr6:118317695-118317696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550520226	chr6:118317702-118317703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562458026	chr6:118317712-118317713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533028659	chr6:118317725-118317726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551629998	chr6:118317726-118317727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566582023	chr6:118317760-118317761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533978543	chr6:118317777-118317778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548849150	chr6:118317780-118317781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139497700	chr6:118317813-118317814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62433679	chr6:118317824-118317825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9374694	chr6:118317830-118317831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6900608	chr6:118317889-118317890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556169822	chr6:118317931-118317932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577096540	chr6:118317962-118317963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113475856	chr6:118317966-118317967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188565071	chr6:118317968-118317969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139460227	chr6:118317973-118317974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199999340	chr6:118318006-118318007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4395762	chr6:118318050-118318051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202244015	chr6:118318057-118318058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573406130	chr6:118318083-118318084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540774115	chr6:118318100-118318101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367548427	chr6:118318103-118318104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573761685	chr6:118318157-118318158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544219174	chr6:118318181-118318182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201498427	chr6:118318211-118318212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201936777	chr6:118318218-118318219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562568686	chr6:118318281-118318282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4640917	chr6:118318307-118318308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118315400-118324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:118323400-118332800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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