Variant report

Variant	nsv981206
Chromosome Location	chr6:167114881-167115499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188604316	chr6:167114882-167114883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535481377	chr6:167114905-167114906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16899309	chr6:167114930-167114931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs193167391	chr6:167114931-167114932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375732454	chr6:167114951-167114952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140692257	chr6:167114988-167114989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557853546	chr6:167115080-167115081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576938585	chr6:167115082-167115083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541252935	chr6:167115094-167115095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79682448	chr6:167115129-167115130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574722602	chr6:167115142-167115143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542144628	chr6:167115198-167115199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185292197	chr6:167115206-167115207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530533613	chr6:167115234-167115235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113893559	chr6:167115258-167115259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545884935	chr6:167115268-167115269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564242734	chr6:167115290-167115291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57100456	chr6:167115306-167115307	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547221250	chr6:167115310-167115311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568566694	chr6:167115349-167115350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529503497	chr6:167115364-167115365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550878135	chr6:167115382-167115383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568884540	chr6:167115385-167115386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111444081	chr6:167115407-167115408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190189907	chr6:167115432-167115433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66759203	chr6:167115448-167115449	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534511764	chr6:167115459-167115460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167102200-167116000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:167102200-167116600	Weak transcription	Brain Anterior Caudate	brain
3	chr6:167102200-167117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:167109200-167117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167112800-167115200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:167112800-167116600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:167113600-167115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:167113600-167115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:167114000-167115000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:167115000-167115200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:167115000-167120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:167115200-167115800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:167115200-167116000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:167115200-167120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:167115400-167118400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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