Variant report

Variant	nsv604823
Chromosome Location	chr6:145184504-145214952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:145201257..145203488-chr6:145205369..145207840,2	K562	blood:
2	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
3	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:
4	chr6:145201337..145203638-chr6:145216536..145219357,2	MCF-7	breast:
5	chr6:145202232..145204712-chr6:145207955..145210367,2	K562	blood:
6	chr6:145195775..145198771-chr6:145199592..145202837,3	K562	blood:
7	chr6:145201257..145203488-chr6:145205369..145207840,2	K562	blood:
8	chr6:145213043..145215099-chr6:145218450..145220487,2	K562	blood:
9	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
10	chr6:145202232..145204712-chr6:145207955..145210367,2	K562	blood:
11	chr6:145195775..145198771-chr6:145199592..145202837,3	K562	blood:
12	chr6:145210923..145212956-chr6:145216545..145218194,2	MCF-7	breast:

No data

Extended variants
information (count: 1212 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4321838	chr6:145184504-145184505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190580938	chr6:145184515-145184516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553007225	chr6:145184516-145184517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111299548	chr6:145184539-145184540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574532605	chr6:145184540-145184541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60633754	chr6:145184550-145184551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182788599	chr6:145184564-145184565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575398337	chr6:145184569-145184570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540546473	chr6:145184579-145184580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537330693	chr6:145184581-145184582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111486459	chr6:145184582-145184583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368271331	chr6:145184591-145184592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117022147	chr6:145184600-145184601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564083824	chr6:145184620-145184621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187071105	chr6:145184649-145184650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541672539	chr6:145184663-145184664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147352423	chr6:145184664-145184665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538999201	chr6:145184750-145184751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554010364	chr6:145184755-145184756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6570649	chr6:145184814-145184815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530890901	chr6:145184829-145184830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35919766	chr6:145184835-145184836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139421605	chr6:145184837-145184838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575735571	chr6:145184879-145184880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534716174	chr6:145184927-145184928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201328726	chr6:145185033-145185034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367842376	chr6:145185034-145185035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200297953	chr6:145185035-145185036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34214532	chr6:145185038-145185039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62429680	chr6:145185065-145185066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557173550	chr6:145185089-145185090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575534704	chr6:145185090-145185091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539508451	chr6:145185096-145185097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199687692	chr6:145185119-145185120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35415004	chr6:145185144-145185145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572751979	chr6:145185158-145185159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539845129	chr6:145185166-145185167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12524896	chr6:145185226-145185227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143945144	chr6:145185236-145185237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2095803	chr6:145185242-145185243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563511012	chr6:145185255-145185256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1933752	chr6:145185269-145185270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148567746	chr6:145185330-145185331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564424863	chr6:145185334-145185335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184275405	chr6:145185335-145185336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546665324	chr6:145185347-145185348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568474524	chr6:145185350-145185351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142922897	chr6:145185390-145185391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4526210	chr6:145185413-145185414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533672894	chr6:145185427-145185428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145167400-145188000	Weak transcription	NHDF-Ad	bronchial
2	chr6:145169400-145189400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:145177400-145192200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:145185800-145192000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:145187800-145188000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:145188000-145188400	Enhancers	NHDF-Ad	bronchial
7	chr6:145188000-145188600	Enhancers	Liver	Liver
8	chr6:145188000-145188600	Enhancers	Dnd41	blood
9	chr6:145188000-145191800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:145188200-145188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:145188400-145189200	Weak transcription	NHDF-Ad	bronchial
12	chr6:145188600-145188800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr6:145188600-145189200	Weak transcription	Liver	Liver
14	chr6:145188600-145189400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:145188600-145189800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:145188800-145189400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:145188800-145189600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:145189000-145189400	Enhancers	Osteobl	bone
19	chr6:145189000-145190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:145189200-145189400	Enhancers	Liver	Liver
21	chr6:145189200-145189400	Enhancers	NHDF-Ad	bronchial
22	chr6:145189200-145189800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:145189400-145189600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:145189400-145189800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:145189400-145194400	Weak transcription	Osteobl	bone
26	chr6:145189600-145189800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:145189600-145195400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:145189800-145190000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:145189800-145191400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:145189800-145191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:145190000-145191400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:145190000-145191800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:145191400-145192600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:145191400-145192800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:145191600-145192400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:145191800-145192400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:145191800-145192600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:145191800-145192600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:145191800-145192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:145191800-145193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:145192000-145192200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:145192000-145192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:145192200-145192400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:145192200-145192600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:145192200-145194400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:145192400-145194400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:145192600-145193800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:145192600-145194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:145192800-145193200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:145192800-145194200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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