Variant report

Variant	nsv886320
Chromosome Location	chr6:81670720-81960107
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
2	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
3	chr19:44005667..44006443-chr6:81951149..81952062,2	MCF-7	breast:
4	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:
5	chr6:81951165..81951953-chr6:82175557..82176202,3	MCF-7	breast:
6	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
7	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
8	chr6:81681010..81683016-chr6:81684816..81687356,2	MCF-7	breast:
9	chr6:81731744..81734648-chr6:81746656..81748984,2	K562	blood:
10	chr6:81735393..81738316-chr6:81740944..81743334,2	K562	blood:
11	chr6:81951603..81952598-chr6:82463481..82464052,2	MCF-7	breast:
12	chr6:81713030..81715719-chr6:81717371..81719570,2	MCF-7	breast:
13	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:

No data

Extended variants
information (count: 4249 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:4249 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10485280	chr6:81670720-81670721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564234816	chr6:81670734-81670735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189057908	chr6:81670735-81670736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs36070570	chr6:81670779-81670780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150504307	chr6:81670782-81670783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533057968	chr6:81670862-81670863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537170719	chr6:81670887-81670888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569267780	chr6:81670900-81670901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531715550	chr6:81670972-81670973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548745573	chr6:81670998-81670999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76796829	chr6:81671063-81671064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190488172	chr6:81671067-81671068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371896643	chr6:81671095-81671096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547921394	chr6:81671104-81671105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183186501	chr6:81671114-81671115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187172268	chr6:81671120-81671121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9449196	chr6:81671222-81671223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191878707	chr6:81671223-81671224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535081253	chr6:81671228-81671229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555085879	chr6:81671231-81671232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149681469	chr6:81671268-81671269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183727844	chr6:81671365-81671366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373847960	chr6:81671383-81671384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564279214	chr6:81671405-81671406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56344747	chr6:81671406-81671407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73750943	chr6:81671407-81671408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199884522	chr6:81671409-81671410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67208721	chr6:81671423-81671424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56384104	chr6:81671425-81671426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201620711	chr6:81671426-81671427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80327319	chr6:81671437-81671438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192759391	chr6:81671469-81671470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185380843	chr6:81671493-81671494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531778816	chr6:81671495-81671496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568671941	chr6:81671528-81671529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140052837	chr6:81671587-81671588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527755562	chr6:81671615-81671616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145677744	chr6:81671621-81671622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140627894	chr6:81671654-81671655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535650330	chr6:81671669-81671670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147754140	chr6:81671706-81671707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539626305	chr6:81671718-81671719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7738775	chr6:81671779-81671780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73750944	chr6:81671780-81671781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572764573	chr6:81671793-81671794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190794458	chr6:81671847-81671848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537508311	chr6:81671888-81671889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149212244	chr6:81671890-81671891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7743338	chr6:81671950-81671951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534682020	chr6:81671953-81671954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81667200-81672000	Weak transcription	Fetal Heart	heart
2	chr6:81669400-81670800	Enhancers	Dnd41	blood
3	chr6:81669600-81672200	Weak transcription	Fetal Intestine Large	intestine
4	chr6:81670800-81676000	Weak transcription	Dnd41	blood
5	chr6:81672000-81672400	Enhancers	Fetal Heart	heart
6	chr6:81672000-81672600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:81672200-81672600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:81672200-81672800	Enhancers	Fetal Intestine Large	intestine
9	chr6:81672600-81676200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:81672600-81677200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:81672800-81673600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:81673600-81677200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:81675800-81677200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:81676000-81679800	Enhancers	Dnd41	blood
15	chr6:81676200-81678000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:81676600-81677800	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:81676800-81677600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:81676800-81679400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:81677200-81677600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:81677200-81677600	Enhancers	Small Intestine	intestine
21	chr6:81677200-81677800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:81677200-81677800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:81677200-81677800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:81677200-81677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:81677200-81678000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:81677200-81678200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:81677200-81678200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:81677200-81678600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:81677200-81679200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:81677600-81678000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:81677600-81679400	Enhancers	Fetal Lung	lung
32	chr6:81678000-81679000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:81678200-81678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:81678200-81683800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:81678400-81678600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:81678600-81679600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:81678800-81681000	Enhancers	Colon Smooth Muscle	Colon
38	chr6:81679600-81680400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:81680600-81681000	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:81682600-81683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:81683400-81684200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:81683600-81684600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:81683600-81685000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:81683800-81684800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:81683800-81685000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:81684000-81685200	Enhancers	Fetal Intestine Large	intestine
47	chr6:81684400-81684800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:81684400-81685000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:81684400-81685000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:81684400-81685000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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