Variant report

Variant	nsv603632
Chromosome Location	chr6:69746054-69781786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69753741..69757695-chr6:69762024..69764244,3	K562	blood:
2	chr6:69762821..69765416-chr6:69768469..69770043,2	K562	blood:
3	chr6:69762821..69765416-chr6:69768469..69770043,2	K562	blood:
4	chr6:69753741..69757695-chr6:69762024..69764244,3	K562	blood:
5	chr6:69762133..69764626-chr6:69765219..69767879,2	K562	blood:
6	chr6:69762133..69764626-chr6:69765219..69767879,2	K562	blood:

Extended variants
information (count: 1441 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1441 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2210867	chr6:69746054-69746055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528063261	chr6:69746091-69746092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143094063	chr6:69746109-69746110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568322751	chr6:69746164-69746165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537284626	chr6:69746201-69746202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112582148	chr6:69746230-69746231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557189995	chr6:69746264-69746265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570160475	chr6:69746315-69746316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11960981	chr6:69746335-69746336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs75556966	chr6:69746343-69746344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147494213	chr6:69746365-69746366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540985329	chr6:69746393-69746394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139357532	chr6:69746434-69746435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180861363	chr6:69746443-69746444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7756040	chr6:69746447-69746448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs202185677	chr6:69746472-69746473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183492663	chr6:69746506-69746507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532707449	chr6:69746550-69746551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118111603	chr6:69746567-69746568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559355238	chr6:69746579-69746580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188613768	chr6:69746603-69746604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548199402	chr6:69746613-69746614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373283868	chr6:69746689-69746690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150036658	chr6:69746690-69746691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550859833	chr6:69746697-69746698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181096748	chr6:69746748-69746749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539572449	chr6:69746761-69746762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369802598	chr6:69746771-69746772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558790816	chr6:69746827-69746828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566154101	chr6:69746841-69746842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145388555	chr6:69746895-69746896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577997011	chr6:69746948-69746949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148802907	chr6:69746969-69746970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574825336	chr6:69747014-69747015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545051369	chr6:69747021-69747022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7743332	chr6:69747028-69747029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575797342	chr6:69747032-69747033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577371238	chr6:69747054-69747055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546338921	chr6:69747093-69747094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559225332	chr6:69747145-69747146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572972648	chr6:69747158-69747159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541876408	chr6:69747179-69747180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564423221	chr6:69747220-69747221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7747784	chr6:69747234-69747235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143928471	chr6:69747293-69747294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550604259	chr6:69747307-69747308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564365053	chr6:69747324-69747325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36039814	chr6:69747382-69747383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397824337	chr6:69747385-69747386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146417902	chr6:69747399-69747400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Prostate cancer	16573809	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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
2	chr6:69720400-69758600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:69721600-69752200	Weak transcription	Fetal Lung	lung
4	chr6:69729400-69759400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:69747400-69747600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:69747400-69747600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:69752200-69753600	Enhancers	Fetal Lung	lung
8	chr6:69753400-69753600	Enhancers	K562	blood
9	chr6:69753600-69753800	Flanking Active TSS	K562	blood
10	chr6:69753600-69794800	Weak transcription	Fetal Lung	lung
11	chr6:69753800-69754000	Enhancers	K562	blood
12	chr6:69754000-69754200	Flanking Active TSS	K562	blood
13	chr6:69754200-69754400	Enhancers	K562	blood
14	chr6:69756400-69769000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:69756600-69759600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:69758600-69760400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:69759600-69760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:69760400-69800200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:69763600-69770200	Weak transcription	Brain Germinal Matrix	brain
20	chr6:69769000-69770000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:69770000-69775000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:69770200-69771000	Enhancers	Brain Germinal Matrix	brain
23	chr6:69770200-69771400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:69771000-69772200	Weak transcription	Brain Germinal Matrix	brain
25	chr6:69771400-69776400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:69772200-69772400	Enhancers	Brain Germinal Matrix	brain
27	chr6:69773200-69775200	Enhancers	A549	lung
28	chr6:69773600-69774000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:69774000-69774400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:69774400-69775200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:69775000-69775200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:69775200-69780200	Weak transcription	A549	lung
33	chr6:69776400-69777600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:69780200-69782400	Enhancers	A549	lung

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