Variant report

Variant	nsv886748
Chromosome Location	chr6:145835917-145911730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145837938..145839550-chr6:145845212..145847304,2	K562	blood:
2	chr6:145873217..145875008-chr6:145943197..145945439,2	K562	blood:
3	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
4	chr6:145837938..145839550-chr6:145845212..145847304,2	K562	blood:
5	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
6	chr6:145854680..145857646-chr6:145960057..145962125,2	K562	blood:

Extended variants
information (count: 2527 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2527 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs401561	chr6:145835917-145835918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568367167	chr6:145836103-145836104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373481353	chr6:145836183-145836184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140472217	chr6:145836197-145836198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574349475	chr6:145836204-145836205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186283327	chr6:145836239-145836240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144423671	chr6:145836269-145836270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539189139	chr6:145836285-145836286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs399169	chr6:145836353-145836354	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs370270740	chr6:145836402-145836403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540224532	chr6:145836425-145836426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536546347	chr6:145836429-145836430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147786643	chr6:145836507-145836508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189044972	chr6:145836526-145836527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563566657	chr6:145836539-145836540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531030924	chr6:145836588-145836589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556674972	chr6:145836609-145836610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374347096	chr6:145836618-145836619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377130	chr6:145836632-145836633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528529945	chr6:145836638-145836639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547019949	chr6:145836643-145836644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544386686	chr6:145836662-145836663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181298551	chr6:145836817-145836818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564232954	chr6:145836827-145836828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533209920	chr6:145836855-145836856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs405206	chr6:145836873-145836874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs186291962	chr6:145836890-145836891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569147779	chr6:145836945-145836946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560061545	chr6:145836969-145836970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539638787	chr6:145836970-145836971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190858722	chr6:145836977-145836978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180726735	chr6:145836981-145836982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528026688	chr6:145836984-145836985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185886764	chr6:145837032-145837033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533639525	chr6:145837055-145837056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554976186	chr6:145837071-145837072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573278679	chr6:145837118-145837119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537419957	chr6:145837133-145837134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557246686	chr6:145837151-145837152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140197264	chr6:145837199-145837200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546381686	chr6:145837229-145837230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564521635	chr6:145837270-145837271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575633297	chr6:145841622-145841623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62438167	chr6:145841696-145841697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530122964	chr6:145841699-145841700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548221353	chr6:145841712-145841713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12664345	chr6:145841771-145841772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570019670	chr6:145841876-145841877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181195822	chr6:145841894-145841895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558837690	chr6:145841931-145841932	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Gastric cancer	17908304	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
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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145829000-145837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:145841600-145842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:145842600-145842800	Enhancers	Stomach Mucosa	stomach
4	chr6:145842800-145851000	Weak transcription	Stomach Mucosa	stomach
5	chr6:145844400-145850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:145848800-145849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:145849400-145850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:145849600-145849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:145850000-145851200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr6:145850000-145851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:145850000-145852600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr6:145850400-145850800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr6:145850400-145853200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:145850400-145854200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:145850600-145851400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:145850600-145851800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:145850600-145852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:145850600-145852600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:145850800-145851000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr6:145850800-145851200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr6:145850800-145851400	Enhancers	Left Ventricle	heart
22	chr6:145850800-145851400	Enhancers	Pancreas	Pancrea
23	chr6:145850800-145851600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr6:145850800-145851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:145850800-145852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:145850800-145854600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:145851000-145851600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr6:145851000-145852400	Enhancers	Stomach Mucosa	stomach
29	chr6:145851000-145853200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr6:145851200-145851400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
31	chr6:145851200-145851400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr6:145851200-145851400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr6:145851200-145851400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:145851200-145853000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:145851400-145851600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr6:145851400-145852400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr6:145851400-145853600	Weak transcription	Left Ventricle	heart
38	chr6:145851600-145851800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr6:145851600-145852600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr6:145851600-145852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:145851600-145853600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:145851800-145853200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr6:145851800-145856000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:145852000-145853000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:145852000-145856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:145852200-145853000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:145852400-145852600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr6:145852400-145852800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr6:145852400-145852800	Weak transcription	Stomach Mucosa	stomach
50	chr6:145852600-145852800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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