Variant report

Variant	nsv1015358
Chromosome Location	chr6:78033996-78066871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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: 1202 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1202 , 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	rs9343598	chr6:78033996-78033997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542309819	chr6:78034037-78034038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199639548	chr6:78034047-78034048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2320296	chr6:78034070-78034071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528272002	chr6:78034089-78034090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190321570	chr6:78034158-78034159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565158304	chr6:78034188-78034189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530724483	chr6:78034250-78034251	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550947768	chr6:78034264-78034265	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567662360	chr6:78034285-78034286	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183281700	chr6:78034325-78034326	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547101762	chr6:78034358-78034359	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143636145	chr6:78034438-78034439	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539198338	chr6:78034450-78034451	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558903215	chr6:78034467-78034468	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374001571	chr6:78034478-78034479	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62416559	chr6:78034526-78034527	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs148175569	chr6:78034532-78034533	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144069920	chr6:78034545-78034546	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534656256	chr6:78034555-78034556	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146856445	chr6:78034609-78034610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573290758	chr6:78034619-78034620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79121031	chr6:78034690-78034691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367828424	chr6:78034762-78034763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552626702	chr6:78034881-78034882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572874147	chr6:78034889-78034890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545154042	chr6:78034893-78034894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564935212	chr6:78034903-78034904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112799274	chr6:78034965-78034966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544509945	chr6:78034973-78034974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143165189	chr6:78034975-78034976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372020652	chr6:78034989-78034990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150542549	chr6:78035014-78035015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75690813	chr6:78035046-78035047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566925069	chr6:78035050-78035051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532511055	chr6:78035055-78035056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138424605	chr6:78035067-78035068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187909685	chr6:78035104-78035105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368733657	chr6:78035130-78035131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13196365	chr6:78035159-78035160	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554825854	chr6:78035169-78035170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568440653	chr6:78035183-78035184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538530113	chr6:78035195-78035196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12525955	chr6:78035208-78035209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539247030	chr6:78035261-78035262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9443399	chr6:78035270-78035271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9343599	chr6:78035297-78035298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182670910	chr6:78035314-78035315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575330927	chr6:78035378-78035379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544448600	chr6:78035390-78035391	Enhancers 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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78017200-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:78033600-78042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:78034000-78034200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:78034000-78034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:78034200-78034600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:78034200-78034600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:78034200-78035200	Enhancers	Adipose Nuclei	Adipose
8	chr6:78034600-78035600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:78034600-78036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:78035200-78036400	Enhancers	Osteobl	bone
11	chr6:78036400-78037400	Weak transcription	Osteobl	bone
12	chr6:78037600-78037800	Enhancers	Osteobl	bone
13	chr6:78040400-78041600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:78040400-78042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:78040800-78042600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:78042600-78044200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:78042600-78044200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:78042600-78044400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:78042600-78044400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:78042800-78044000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:78042800-78044000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:78042800-78044200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:78042800-78044400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:78043000-78043600	ZNF genes & repeats	Right Ventricle	heart
25	chr6:78043000-78043800	ZNF genes & repeats	Gastric	stomach
26	chr6:78043000-78044000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:78043200-78043600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:78043200-78044000	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:78043200-78046000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:78043400-78045000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr6:78043600-78047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:78043800-78044400	Weak transcription	Gastric	stomach
33	chr6:78044000-78051200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:78044200-78045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:78044200-78051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:78044200-78078200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:78044400-78051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:78044400-78051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:78044600-78044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:78045000-78045400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:78045000-78045800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:78045000-78049400	Weak transcription	HUVEC	blood vessel
43	chr6:78045200-78045600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:78045200-78049000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:78045400-78046000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:78045400-78047000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:78045400-78050200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:78045600-78045800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:78045600-78050200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:78045800-78047000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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