Variant report

Variant	esv2180999
Chromosome Location	chr6:107124346-107125030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555780134	chr6:107124346-107124347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536738788	chr6:107124387-107124388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372326875	chr6:107124439-107124440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114066479	chr6:107124440-107124441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572282509	chr6:107124469-107124470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13195845	chr6:107124513-107124514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4276539	chr6:107124516-107124517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564430383	chr6:107124532-107124533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577839949	chr6:107124537-107124538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543441159	chr6:107124540-107124541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4594989	chr6:107124543-107124544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9386577	chr6:107124575-107124576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs4276540	chr6:107124586-107124587	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs558989806	chr6:107124610-107124611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528705763	chr6:107124628-107124629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551660164	chr6:107124684-107124685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571941790	chr6:107124688-107124689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537333308	chr6:107124689-107124690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551037988	chr6:107124740-107124741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567664474	chr6:107124748-107124749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182677174	chr6:107124765-107124766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553522300	chr6:107124784-107124785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543630517	chr6:107124794-107124795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563324354	chr6:107124801-107124802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534849200	chr6:107124802-107124803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146328432	chr6:107124822-107124823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13198848	chr6:107124828-107124829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55832430	chr6:107124834-107124835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs57588043	chr6:107124838-107124839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56404130	chr6:107124848-107124849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs3121444	chr6:107124918-107124919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs188649371	chr6:107124939-107124940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543349642	chr6:107124940-107124941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28460470	chr6:107124965-107124966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191704469	chr6:107124971-107124972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573317244	chr6:107125001-107125002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542187845	chr6:107125006-107125007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112262749	chr6:107125007-107125008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371580780	chr6:107125012-107125013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78367809	chr6:107125019-107125020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Burkitt''s lymphoma	20823134	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
2	chr6:107106600-107126200	Weak transcription	Psoas Muscle	Psoas
3	chr6:107114000-107125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:107116800-107124800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:107116800-107125000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:107117600-107130800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:107121000-107125200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:107121000-107125200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:107121200-107125400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:107124800-107126200	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:107125000-107126000	Enhancers	Primary B cells from cord blood	blood

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