Variant report

Variant	nsv1023406
Chromosome Location	chr6:65779125-65824670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65781439..65783033-chr6:65783370..65784893,2	MCF-7	breast:
2	chr6:65778187..65780499-chr6:65782117..65784614,2	K562	blood:
3	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
4	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
5	chr6:65778187..65780499-chr6:65782117..65784614,2	K562	blood:
6	chr6:65781439..65783033-chr6:65783370..65784893,2	MCF-7	breast:

Extended variants
information (count: 331 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116606658	chr6:65784836-65784837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193302205	chr6:65784842-65784843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370856552	chr6:65784891-65784892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183601405	chr6:65784895-65784896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145866978	chr6:65784995-65784996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188251619	chr6:65785026-65785027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560403004	chr6:65785067-65785068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374229100	chr6:65785068-65785069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191553804	chr6:65785084-65785085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112605991	chr6:65785094-65785095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562685156	chr6:65785169-65785170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368446977	chr6:65785187-65785188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146646685	chr6:65785277-65785278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571288283	chr6:65785310-65785311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141033894	chr6:65785338-65785339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184034068	chr6:65785346-65785347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567531009	chr6:65785371-65785372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536403095	chr6:65785409-65785410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556715537	chr6:65785419-65785420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372216217	chr6:65785443-65785444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190073511	chr6:65785506-65785507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114734458	chr6:65785508-65785509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557490528	chr6:65785513-65785514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10455569	chr6:65785515-65785516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150256675	chr6:65785522-65785523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367564809	chr6:65785536-65785537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201946515	chr6:65785616-65785617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554806847	chr6:65785628-65785629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542494894	chr6:65785652-65785653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562684167	chr6:65785657-65785658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187155670	chr6:65785662-65785663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576289347	chr6:65785671-65785672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545262619	chr6:65785672-65785673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190345791	chr6:65785681-65785682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527641271	chr6:65785787-65785788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542333564	chr6:65785893-65785894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561076191	chr6:65785929-65785930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371445772	chr6:65785934-65785935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547489150	chr6:65785935-65785936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376027185	chr6:65785940-65785941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530201438	chr6:65785970-65785971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550142898	chr6:65786037-65786038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570203250	chr6:65786064-65786065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374905724	chr6:65786111-65786112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138792435	chr6:65786200-65786201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149365821	chr6:65786244-65786245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533816041	chr6:65786276-65786277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553791285	chr6:65786310-65786311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147062521	chr6:65786391-65786392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536320655	chr6:65786456-65786457	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65784800-65786400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:65785400-65786600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:65785800-65786200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:65786600-65788400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:65788400-65788600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:65788600-65789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:65789800-65791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:65807800-65808200	Enhancers	Fetal Brain Female	brain
9	chr6:65808000-65808400	Enhancers	Fetal Brain Male	brain
10	chr6:65819600-65819800	Enhancers	Ovary	ovary
11	chr6:65820000-65820400	Enhancers	Fetal Kidney	kidney
12	chr6:65822600-65823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:65822600-65823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:65823400-65824000	Enhancers	HUVEC	blood vessel

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