Variant report

Variant	esv1826302
Chromosome Location	chr6:120629256-120652750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532561293	chr6:120629301-120629302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552523077	chr6:120629305-120629306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566344810	chr6:120629306-120629307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182761571	chr6:120629338-120629339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7739590	chr6:120629341-120629342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568419557	chr6:120629344-120629345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73522860	chr6:120629379-120629380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111694879	chr6:120629387-120629388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557483369	chr6:120629409-120629410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386705251	chr6:120629416-120629417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10683899	chr6:120629417-120629418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34175164	chr6:120629418-120629419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35584165	chr6:120629420-120629421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577462439	chr6:120629453-120629454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556920242	chr6:120629496-120629497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575289628	chr6:120629516-120629517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151113156	chr6:120629580-120629581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140035628	chr6:120629597-120629598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376329218	chr6:120629599-120629600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114731947	chr6:120629613-120629614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149760097	chr6:120629614-120629615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79408660	chr6:120629640-120629641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561245331	chr6:120629662-120629663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574083915	chr6:120629694-120629695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9385128	chr6:120629699-120629700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563020716	chr6:120629711-120629712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539188298	chr6:120629737-120629738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374603350	chr6:120629753-120629754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560813765	chr6:120629761-120629762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552262193	chr6:120629770-120629771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559667011	chr6:120629771-120629772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539503942	chr6:120629786-120629787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187481232	chr6:120629788-120629789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548562852	chr6:120629814-120629815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9387741	chr6:120629854-120629855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192959878	chr6:120629857-120629858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367858605	chr6:120629860-120629861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184569880	chr6:120629879-120629880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145717511	chr6:120629921-120629922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539515155	chr6:120629922-120629923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553435497	chr6:120629961-120629962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540382203	chr6:120629981-120629982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146586256	chr6:120629985-120629986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3013671	chr6:120629988-120629989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2927902	chr6:120630012-120630013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71559882	chr6:120630025-120630026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369668123	chr6:120630029-120630030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12210907	chr6:120630054-120630055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140333039	chr6:120630084-120630085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113338615	chr6:120630099-120630100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:120651800-120652200	Enhancers	HepG2	liver

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