Variant report

Variant	nsv981314
Chromosome Location	chr6:101890811-101898957
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	chr6:101884939..101886489-chr6:101898310..101900658,2	K562	blood:

Extended variants
information (count: 269 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73502676	chr6:101890830-101890831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572236738	chr6:101890833-101890834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62419572	chr6:101890858-101890859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142108952	chr6:101890879-101890880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145829607	chr6:101890917-101890918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562386852	chr6:101890930-101890931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531808975	chr6:101890938-101890939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544102395	chr6:101890979-101890980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370082483	chr6:101891007-101891008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530863751	chr6:101891014-101891015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189936592	chr6:101891049-101891050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547390286	chr6:101891068-101891069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559373003	chr6:101891089-101891090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551060907	chr6:101891110-101891111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2852527	chr6:101891212-101891213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555738365	chr6:101891215-101891216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116041859	chr6:101891284-101891285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536673745	chr6:101891338-101891339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536804660	chr6:101891418-101891419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546708211	chr6:101891435-101891436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549274506	chr6:101891487-101891488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181665954	chr6:101891521-101891522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145353754	chr6:101891522-101891523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185265085	chr6:101891570-101891571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17061967	chr6:101891573-101891574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539591520	chr6:101891591-101891592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188379050	chr6:101891595-101891596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149184277	chr6:101891597-101891598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559192447	chr6:101891652-101891653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543620383	chr6:101891653-101891654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562428143	chr6:101891665-101891666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574418205	chr6:101891696-101891697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74505387	chr6:101891742-101891743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559435890	chr6:101891779-101891780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532907964	chr6:101891802-101891803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551464197	chr6:101891804-101891805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563203561	chr6:101891805-101891806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530754538	chr6:101891838-101891839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116580295	chr6:101891865-101891866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567110059	chr6:101891887-101891888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534642747	chr6:101891894-101891895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181319474	chr6:101891938-101891939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572065229	chr6:101891941-101891942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373674480	chr6:101891942-101891943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2251122	chr6:101891945-101891946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374486097	chr6:101891946-101891947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558249780	chr6:101891953-101891954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576433378	chr6:101891964-101891965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554670953	chr6:101891983-101891984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113007561	chr6:101892183-101892184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101879200-101892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:101882800-101893000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:101887400-101891600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:101891800-101892000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:101892600-101893200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:101892800-101893200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:101892800-101894000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:101893000-101893200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:101893000-101893200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:101893200-101894800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:101893200-101900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:101896600-101897000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:101896600-101897800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:101897000-101897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:101897000-101897600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:101897400-101897600	Enhancers	HUES64 Cell Line	embryonic stem cell

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