Variant report

Variant	nsv981327
Chromosome Location	chr6:63336237-63347924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:390 , 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	rs568427079	chr6:63336248-63336249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146486862	chr6:63336258-63336259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557412175	chr6:63336259-63336260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62419116	chr6:63336321-63336322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572377722	chr6:63336386-63336387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192281784	chr6:63336445-63336446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573525750	chr6:63336450-63336451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138863477	chr6:63336451-63336452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183181802	chr6:63336456-63336457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187471532	chr6:63336464-63336465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191878503	chr6:63336465-63336466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562152102	chr6:63336474-63336475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75451384	chr6:63336485-63336486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564564736	chr6:63336499-63336500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544945390	chr6:63336500-63336501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559902847	chr6:63336575-63336576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113552107	chr6:63336588-63336589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17384725	chr6:63336596-63336597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562012046	chr6:63336649-63336650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558314000	chr6:63336656-63336657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141247411	chr6:63336680-63336681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377464766	chr6:63336683-63336684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550954244	chr6:63336745-63336746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182580471	chr6:63336747-63336748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572523043	chr6:63336797-63336798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187940676	chr6:63336834-63336835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193052116	chr6:63336870-63336871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150388972	chr6:63336881-63336882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555951971	chr6:63336887-63336888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138081895	chr6:63336898-63336899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537550245	chr6:63336911-63336912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561186876	chr6:63336919-63336920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555734162	chr6:63336934-63336935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577256280	chr6:63336946-63336947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11756394	chr6:63337004-63337005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192181819	chr6:63337012-63337013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572326547	chr6:63337023-63337024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542421581	chr6:63337076-63337077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561145702	chr6:63337106-63337107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529324708	chr6:63337107-63337108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185687946	chr6:63337110-63337111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562861697	chr6:63337116-63337117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149525539	chr6:63337133-63337134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543394403	chr6:63337183-63337184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563287666	chr6:63337186-63337187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552083034	chr6:63337197-63337198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190564702	chr6:63337257-63337258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192450287	chr6:63337295-63337296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549271943	chr6:63337317-63337318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184451477	chr6:63337324-63337325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63327800-63338600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63336200-63337000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:63340400-63341200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:63340600-63340800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:63340600-63340800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:63340600-63341000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:63340600-63341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:63340800-63341200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:63340800-63341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:63340800-63341800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:63341000-63342000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:63341200-63341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:63341200-63341600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:63341200-63341600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:63341600-63342200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:63341600-63342200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:63341600-63342600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:63341800-63342600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:63341800-63342800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:63342000-63343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:63342600-63347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:63342800-63347600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:63343000-63347400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:63347400-63348000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr6:63347600-63348000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:63347600-63348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:63347600-63348000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr6:63347600-63348000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr6:63347600-63348000	Active TSS	Brain Substantia Nigra	brain
30	chr6:63347800-63348000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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