Variant report

Variant	nsv970696
Chromosome Location	chr6:102271077-102275235
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	chr6:102270226..102272890-chr6:102273538..102276140,2	K562	blood:
2	chr6:102270226..102272890-chr6:102273538..102276140,2	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529067093	chr6:102271106-102271107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188869657	chr6:102271128-102271129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573964870	chr6:102271165-102271166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542906724	chr6:102271220-102271221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71717742	chr6:102271233-102271234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200344775	chr6:102271235-102271236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs628982	chr6:102271239-102271240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552287859	chr6:102271286-102271287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112963745	chr6:102271333-102271334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141001459	chr6:102271335-102271336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112074633	chr6:102271336-102271337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10668289	chr6:102271337-102271338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570830539	chr6:102271339-102271340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144738387	chr6:102271345-102271346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148524874	chr6:102271347-102271348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546311088	chr6:102271407-102271408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529744372	chr6:102271423-102271424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192249611	chr6:102271551-102271552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141745898	chr6:102271568-102271569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34838171	chr6:102271597-102271598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147199953	chr6:102271613-102271614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140489387	chr6:102271633-102271634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113750439	chr6:102271657-102271658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11454516	chr6:102271738-102271739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78704706	chr6:102271739-102271740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58836505	chr6:102271744-102271745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368023712	chr6:102271745-102271746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199771823	chr6:102271746-102271747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75318440	chr6:102271747-102271748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144556398	chr6:102271748-102271749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397962180	chr6:102271750-102271751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74381993	chr6:102271751-102271752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9390787	chr6:102271752-102271753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543276736	chr6:102271755-102271756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59380113	chr6:102271756-102271757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529175314	chr6:102271757-102271758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201820802	chr6:102271758-102271759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77177144	chr6:102271762-102271763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76150856	chr6:102271763-102271764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550895159	chr6:102271773-102271774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116998667	chr6:102271782-102271783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530941061	chr6:102271802-102271803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527740432	chr6:102271805-102271806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183973751	chr6:102271851-102271852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139038604	chr6:102271888-102271889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2518269	chr6:102271923-102271924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374349971	chr6:102271933-102271934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550228462	chr6:102271984-102271985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2518193	chr6:102271993-102271994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144959698	chr6:102272011-102272012	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102266200-102272800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:102272400-102272800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:102272400-102272800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:102272400-102273000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:102272400-102273200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:102272400-102273200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:102272400-102273200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:102272400-102273200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:102272400-102273200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:102272600-102273000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:102272600-102273000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:102272800-102273000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:102272800-102273400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:102273400-102275000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:102274600-102275400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:102275000-102275200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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