Variant report

Variant	esv3447365
Chromosome Location	chr6:63346193-63348291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578089946	chr6:63346324-63346325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539357007	chr6:63346414-63346415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188569058	chr6:63346423-63346424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192745428	chr6:63346453-63346454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77883465	chr6:63346464-63346465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184734498	chr6:63346493-63346494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150002136	chr6:63346522-63346523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541100866	chr6:63346530-63346531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188312882	chr6:63346599-63346600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180671379	chr6:63346604-63346605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35820200	chr6:63346612-63346613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576111696	chr6:63346699-63346700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541809088	chr6:63346743-63346744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145008823	chr6:63346852-63346853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530833471	chr6:63346978-63346979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552218409	chr6:63346979-63346980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570612136	chr6:63347080-63347081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535669877	chr6:63347092-63347093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117957377	chr6:63347141-63347142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74872107	chr6:63347160-63347161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561520897	chr6:63347161-63347162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183775403	chr6:63347180-63347181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536356761	chr6:63347206-63347207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573717193	chr6:63347214-63347215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569760977	chr6:63347243-63347244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537727186	chr6:63347244-63347245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567405107	chr6:63347269-63347270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530984114	chr6:63347283-63347284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377456206	chr6:63347292-63347293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2843036	chr6:63347321-63347322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189625528	chr6:63347328-63347329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553604309	chr6:63347339-63347340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574542100	chr6:63347340-63347341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541995313	chr6:63347359-63347360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563254704	chr6:63347377-63347378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575166982	chr6:63347382-63347383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532947023	chr6:63347405-63347406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551270649	chr6:63347407-63347408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563194941	chr6:63347416-63347417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545801868	chr6:63347418-63347419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376817795	chr6:63347419-63347420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs57902463	chr6:63347434-63347435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546349401	chr6:63347440-63347441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561587115	chr6:63347454-63347455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182329613	chr6:63347462-63347463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112413952	chr6:63347472-63347473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370703823	chr6:63347473-63347474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186895036	chr6:63347474-63347475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552561470	chr6:63347482-63347483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571007351	chr6:63347512-63347513	Weak transcription ZNF genes & repeats	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63342600-63347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:63342800-63347600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:63343000-63347400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:63347400-63348000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr6:63347600-63348000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:63347600-63348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:63347600-63348000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr6:63347600-63348000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr6:63347600-63348000	Active TSS	Brain Substantia Nigra	brain
10	chr6:63347800-63348000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr6:63348000-63356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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