Variant report

Variant	nsv1024795
Chromosome Location	chr6:78028751-78076926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:78025798..78027622-chr6:78028846..78031476,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTR1B-1	chr6:78060412-78060451	XLOC_005769
2	lnc-MYO6-15	chr6:78060338-78060451	NONHSAT113650

Extended variants
information (count: 1819 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1819 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186514140	chr6:78028849-78028850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529971236	chr6:78028864-78028865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546915538	chr6:78028875-78028876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560475149	chr6:78028876-78028877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532533026	chr6:78028879-78028880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552314266	chr6:78028883-78028884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569304346	chr6:78028884-78028885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531727952	chr6:78028900-78028901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191415050	chr6:78028945-78028946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566230047	chr6:78028963-78028964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568318149	chr6:78028971-78028972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534169115	chr6:78028981-78028982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554028877	chr6:78028985-78028986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72898705	chr6:78028987-78028988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557862197	chr6:78029018-78029019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538218595	chr6:78029142-78029143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558283881	chr6:78029203-78029204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9443397	chr6:78029209-78029210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200734873	chr6:78029214-78029215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529070675	chr6:78029223-78029224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528423585	chr6:78029304-78029305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183555143	chr6:78029309-78029310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543976543	chr6:78029332-78029333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187315039	chr6:78029384-78029385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554697829	chr6:78029403-78029404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190963133	chr6:78029411-78029412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141286096	chr6:78029430-78029431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569847699	chr6:78029442-78029443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555359324	chr6:78029467-78029468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36011757	chr6:78029517-78029518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183154222	chr6:78029524-78029525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145025782	chr6:78029535-78029536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532467600	chr6:78029539-78029540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546144808	chr6:78029559-78029560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562748083	chr6:78029560-78029561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186671600	chr6:78029572-78029573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192163475	chr6:78029648-78029649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532160812	chr6:78029667-78029668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369878718	chr6:78029673-78029674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148296465	chr6:78029732-78029733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527618361	chr6:78029738-78029739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13208313	chr6:78029743-78029744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547606140	chr6:78029753-78029754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370706066	chr6:78029762-78029763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570776603	chr6:78029787-78029788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11963842	chr6:78029812-78029813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141392822	chr6:78029856-78029857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184428685	chr6:78029872-78029873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537888964	chr6:78029946-78029947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374408504	chr6:78030023-78030024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78017200-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:78031000-78031400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:78031000-78031400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:78031000-78031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:78031400-78032400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78032400-78033200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:78033600-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:78034000-78034200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:78034000-78034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:78034200-78034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:78034200-78034600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:78034200-78035200	Enhancers	Adipose Nuclei	Adipose
13	chr6:78034600-78035600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:78034600-78036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:78035200-78036400	Enhancers	Osteobl	bone
16	chr6:78036400-78037400	Weak transcription	Osteobl	bone
17	chr6:78037600-78037800	Enhancers	Osteobl	bone
18	chr6:78040400-78041600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:78040400-78042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:78040800-78042600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:78042600-78044200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:78042600-78044200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:78042600-78044400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:78042600-78044400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:78042800-78044000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:78042800-78044000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:78042800-78044200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:78042800-78044400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:78043000-78043600	ZNF genes & repeats	Right Ventricle	heart
30	chr6:78043000-78043800	ZNF genes & repeats	Gastric	stomach
31	chr6:78043000-78044000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:78043200-78043600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:78043200-78044000	ZNF genes & repeats	Pancreas	Pancrea
34	chr6:78043200-78046000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:78043400-78045000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr6:78043600-78047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:78043800-78044400	Weak transcription	Gastric	stomach
38	chr6:78044000-78051200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:78044200-78045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:78044200-78051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:78044400-78051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:78044400-78051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:78044600-78044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:78045000-78045400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:78045000-78045800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:78045000-78049400	Weak transcription	HUVEC	blood vessel
48	chr6:78045200-78045600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:78045200-78049000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:78045400-78046000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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