Variant report

Variant	nsv1030694
Chromosome Location	chr6:62692221-62800863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
2	chr6:62761124..62761875-chrX:154244873..154245663,2	MCF-7	breast:
3	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:

Extended variants
information (count: 4062 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4062 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181550627	chr6:62692289-62692290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577343603	chr6:62692318-62692319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369769233	chr6:62692324-62692325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372979550	chr6:62692359-62692360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559785623	chr6:62692369-62692370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566737311	chr6:62692403-62692404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9363619	chr6:62692409-62692410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562902578	chr6:62692436-62692437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9453843	chr6:62692444-62692445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201282225	chr6:62692445-62692446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551835645	chr6:62692462-62692463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570563947	chr6:62692482-62692483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139062812	chr6:62692493-62692494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370294615	chr6:62692542-62692543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78180034	chr6:62692561-62692562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79072068	chr6:62692577-62692578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73481183	chr6:62692588-62692589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373815282	chr6:62692625-62692626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189563140	chr6:62692632-62692633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550910980	chr6:62692688-62692689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570039678	chr6:62692692-62692693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376471538	chr6:62692747-62692748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142568722	chr6:62692754-62692755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552835236	chr6:62692762-62692763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150945442	chr6:62692784-62692785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370918920	chr6:62692803-62692804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549807394	chr6:62692846-62692847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181572434	chr6:62692887-62692888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569802186	chr6:62692921-62692922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557073399	chr6:62692923-62692924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201550372	chr6:62692985-62692986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2675988	chr6:62693090-62693091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370626719	chr6:62693104-62693105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553232983	chr6:62693105-62693106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149013871	chr6:62693113-62693114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112417950	chr6:62693134-62693135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs70993191	chr6:62693144-62693145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7738985	chr6:62693145-62693146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7738989	chr6:62693149-62693150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574941253	chr6:62693153-62693154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542081879	chr6:62693163-62693164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374176238	chr6:62693197-62693198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563658642	chr6:62693210-62693211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76278053	chr6:62693218-62693219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554778238	chr6:62693230-62693231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564026018	chr6:62693338-62693339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528142801	chr6:62693344-62693345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546389028	chr6:62693350-62693351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140575893	chr6:62693362-62693363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372403305	chr6:62693364-62693365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62677400-62704600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:62686800-62718800	Weak transcription	Primary B cells from cord blood	blood
3	chr6:62691000-62699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:62692200-62692400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:62695400-62695600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:62698600-62699800	Enhancers	Fetal Brain Male	brain
7	chr6:62699000-62699200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:62699200-62699800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:62700000-62705200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:62701400-62702000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:62705200-62705400	Enhancers	Fetal Intestine Large	intestine
12	chr6:62710800-62711200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:62710800-62711200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:62716000-62723000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:62718400-62718600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:62718800-62719200	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr6:62719000-62719400	Weak transcription	Fetal Intestine Large	intestine
18	chr6:62719200-62719600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr6:62719200-62723600	Weak transcription	Primary B cells from cord blood	blood
20	chr6:62719400-62720000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:62719400-62720000	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr6:62719400-62720200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr6:62719600-62723600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:62722400-62723600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:62722400-62724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:62723600-62724000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:62723600-62724000	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:62723600-62724400	Enhancers	Primary B cells from cord blood	blood
29	chr6:62724000-62724400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:62724400-62749400	Weak transcription	Primary B cells from cord blood	blood
31	chr6:62732600-62733000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:62733000-62737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:62736400-62736600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:62736600-62737600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:62737000-62738000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:62737200-62738000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:62737200-62742800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:62737400-62738000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:62737600-62738000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:62737600-62738000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:62737600-62738000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:62737600-62738000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:62737600-62738000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:62737800-62738000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:62738000-62744000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:62738000-62745800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:62741600-62741800	ZNF genes & repeats	Lung	lung
48	chr6:62742400-62748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:62743400-62744200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:62744000-62745400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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