Variant report

Variant	esv1819580
Chromosome Location	chr6:153793306-153817811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:
2	chr6:153806444..153808679-chr6:153811134..153812918,2	MCF-7	breast:
3	chr6:153806444..153808679-chr6:153811134..153812918,2	MCF-7	breast:
4	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:
5	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:

Extended variants
information (count: 606 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552947885	chr6:153800257-153800258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577881650	chr6:153800292-153800293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557652341	chr6:153800357-153800358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141413987	chr6:153800377-153800378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375206762	chr6:153800410-153800411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145245102	chr6:153800414-153800415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200690115	chr6:153800419-153800420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs575625243	chr6:153800479-153800480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575873608	chr6:153800571-153800572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564286657	chr6:153800591-153800592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs377545800	chr6:153800634-153800635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147048429	chr6:153800653-153800654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533192199	chr6:153800662-153800663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573318602	chr6:153800721-153800722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs17309207	chr6:153800732-153800733	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115414646	chr6:153800757-153800758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532855229	chr6:153800790-153800791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201720547	chr6:153800831-153800832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187012186	chr6:153800854-153800855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138285869	chr6:153800889-153800890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530513080	chr6:153800906-153800907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs80026009	chr6:153800931-153800932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567026349	chr6:153801014-153801015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374754829	chr6:153801035-153801036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150544318	chr6:153801082-153801083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201648088	chr6:153801086-153801087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112189280	chr6:153801087-153801088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373201992	chr6:153801100-153801101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3035902	chr6:153801101-153801102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2035006	chr6:153801170-153801171	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs677727	chr6:153801181-153801182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs677726	chr6:153801185-153801186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2035005	chr6:153801248-153801249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79213350	chr6:153801296-153801297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28679398	chr6:153801297-153801298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536738871	chr6:153801344-153801345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548294976	chr6:153801360-153801361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4429961	chr6:153801430-153801431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555052908	chr6:153801500-153801501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1906085	chr6:153801508-153801509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540227514	chr6:153801526-153801527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149369341	chr6:153801580-153801581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144260403	chr6:153801597-153801598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577453043	chr6:153801610-153801611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559547878	chr6:153801648-153801649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529930776	chr6:153801653-153801654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79308323	chr6:153801654-153801655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371116133	chr6:153801680-153801681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530186822	chr6:153801689-153801690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs270316	chr6:153801692-153801693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153800200-153801000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:153801000-153804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:153803600-153806400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:153804000-153805400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:153805200-153806000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:153805400-153808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:153806400-153806800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:153808200-153810400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:153810400-153812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:153812800-153815000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:153813800-153814600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:153814000-153814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:153814600-153819200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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