Variant report

Variant	nsv522249
Chromosome Location	chr6:165813799-165814173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs220785	chr6:165813799-165813800	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192142169	chr6:165813819-165813820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79603695	chr6:165813866-165813867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182884524	chr6:165813904-165813905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138022094	chr6:165813905-165813906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560227423	chr6:165813912-165813913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs527538071	chr6:165813919-165813920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538180017	chr6:165813931-165813932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552047956	chr6:165813945-165813946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531706848	chr6:165813971-165813972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549896615	chr6:165813972-165813973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs520349	chr6:165813984-165813985	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs567298934	chr6:165814029-165814030	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188630724	chr6:165814045-165814046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568296507	chr6:165814070-165814071	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547962972	chr6:165814107-165814108	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192584392	chr6:165814126-165814127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142603365	chr6:165814140-165814141	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145964369	chr6:165814165-165814166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12528988	chr6:165814173-165814174	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165747600-165853000	Weak transcription	A549	lung
2	chr6:165772000-165835800	Weak transcription	Fetal Kidney	kidney
3	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:165790200-165831400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:165791400-165834000	Weak transcription	Brain Anterior Caudate	brain
6	chr6:165796400-165823000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:165799000-165817600	Weak transcription	Fetal Brain Male	brain
8	chr6:165802000-165827200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:165802800-165831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:165804200-165828200	Weak transcription	Hela-S3	cervix
11	chr6:165804200-165831400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:165804400-165816600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:165804400-165826000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:165804400-165827600	Weak transcription	HSMMtube	muscle
15	chr6:165806400-165826000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:165806400-165862000	Weak transcription	Right Ventricle	heart
17	chr6:165808800-165824200	Weak transcription	Left Ventricle	heart
18	chr6:165809000-165814000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:165809200-165816600	Weak transcription	HSMM	muscle
20	chr6:165810400-165814000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:165812600-165816200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:165813400-165813800	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr6:165813400-165815000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:165813600-165826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:165813800-165831600	Weak transcription	Brain Germinal Matrix	brain
26	chr6:165814000-165814200	ZNF genes & repeats	Fetal Lung	lung
27	chr6:165814000-165814400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:165814000-165815600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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