Variant report

Variant	nsv528938
Chromosome Location	chr6:161580532-161584383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161582457..161584004-chr6:161799763..161802627,2	K562	blood:
2	chr6:161574079..161576622-chr6:161584253..161586055,2	K562	blood:
3	chr6:161559424..161561284-chr6:161580319..161582815,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARK2-1	chr6:161581164-161583014	NONHSAT115937

Extended variants
information (count: 166 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2140652	chr6:161580532-161580533	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557252944	chr6:161580579-161580580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375636468	chr6:161580626-161580627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371065581	chr6:161580636-161580637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55791432	chr6:161580639-161580640	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113110074	chr6:161580642-161580643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143847482	chr6:161580643-161580644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528324896	chr6:161580698-161580699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138636275	chr6:161580710-161580711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565036272	chr6:161580713-161580714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530412943	chr6:161580800-161580801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550556607	chr6:161580848-161580849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567572986	chr6:161580868-161580869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530347176	chr6:161580873-161580874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546755642	chr6:161580896-161580897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566706656	chr6:161580897-161580898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141168560	chr6:161580922-161580923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60587380	chr6:161580970-161580971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9458143	chr6:161580979-161580980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9458144	chr6:161580980-161580981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569343051	chr6:161580999-161581000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188136699	chr6:161581002-161581003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374451500	chr6:161581030-161581031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192903847	chr6:161581036-161581037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573949231	chr6:161581039-161581040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370883762	chr6:161581055-161581056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553330560	chr6:161581086-161581087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572946618	chr6:161581129-161581130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36034771	chr6:161581136-161581137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35601038	chr6:161581137-161581138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528962288	chr6:161581156-161581157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398003229	chr6:161581165-161581166	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs9365254	chr6:161581167-161581168	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200515364	chr6:161581168-161581169	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs185279736	chr6:161581176-161581177	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545078307	chr6:161581209-161581210	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs146933189	chr6:161581224-161581225	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs147994834	chr6:161581246-161581247	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs114936048	chr6:161581278-161581279	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs555186522	chr6:161581294-161581295	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs374052750	chr6:161581298-161581299	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs141692895	chr6:161581319-161581320	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs560565863	chr6:161581404-161581405	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs56234220	chr6:161581406-161581407	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs527697521	chr6:161581439-161581440	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs187463737	chr6:161581516-161581517	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs546888264	chr6:161581547-161581548	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375695090	chr6:161581550-161581551	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs560881902	chr6:161581570-161581571	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs149016342	chr6:161581592-161581593	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
3	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
4	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
6	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
10	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
11	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:161558400-161581400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
18	chr6:161560000-161583200	Weak transcription	HMEC	breast
19	chr6:161560200-161583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:161560400-161581400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:161560400-161584600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:161560600-161584400	Weak transcription	NHLF	lung
23	chr6:161560800-161582400	Weak transcription	HSMMtube	muscle
24	chr6:161563400-161588200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:161567600-161585400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:161568000-161581200	Weak transcription	Osteobl	bone
27	chr6:161568000-161581400	Weak transcription	NH-A	brain
28	chr6:161569200-161584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:161569600-161581400	Weak transcription	NHDF-Ad	bronchial
30	chr6:161569800-161583000	Weak transcription	HSMM	muscle
31	chr6:161570200-161583200	Weak transcription	Left Ventricle	heart
32	chr6:161571200-161580800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:161571200-161587600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:161571600-161587400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:161572200-161582600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:161572800-161586200	Weak transcription	K562	blood
37	chr6:161573800-161581200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:161574600-161581600	Weak transcription	Spleen	Spleen
39	chr6:161574600-161583400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:161574600-161592400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:161575000-161581400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:161575000-161581800	Weak transcription	Aorta	Aorta
43	chr6:161575000-161584800	Weak transcription	Fetal Lung	lung
44	chr6:161575200-161584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:161575400-161583800	Weak transcription	Brain Anterior Caudate	brain
46	chr6:161575600-161581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:161575600-161583200	Weak transcription	Right Ventricle	heart
48	chr6:161575600-161591000	Weak transcription	Gastric	stomach
49	chr6:161575600-161593400	Weak transcription	Esophagus	oesophagus
50	chr6:161575800-161582400	Weak transcription	Ovary	ovary

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