Variant report

Variant	nsv470861
Chromosome Location	chr6:132291785-132351866
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:
2	6:132317180-132317980..6:132646256-132647474	K562	blood:
3	chr6:132249361..132250198-chr6:132344585..132345369,2	MCF-7	breast:
4	6:132269655-132282174..6:132296348-132298035	H1-hESC	embryonic stem cell:	embryo
5	6:132269655-132282174..6:132301703-132305703	Hela-S3	cervix:
6	6:132296348-132298035..6:132646256-132647474	Hela-S3	cervix:
7	6:132317180-132317980..6:132641847-132646256	K562	blood:
8	6:132182612-132191683..6:132344161-132349036	Hela-S3	cervix:
9	chr6:132288336..132290125-chr6:132293196..132295042,2	K562	blood:
10	chr6:132334438..132336912-chr6:132342769..132344935,2	MCF-7	breast:
11	6:132269655-132282174..6:132337728-132339611	H1-hESC	embryonic stem cell:	embryo
12	6:132269655-132282174..6:132331834-132333122	H1-hESC	embryonic stem cell:	embryo
13	6:132269655-132282174..6:132344161-132349036	H1-hESC	embryonic stem cell:	embryo
14	6:132269655-132282174..6:132286019-132296348	Hela-S3	cervix:
15	6:132269655-132282174..6:132333122-132335737	Hela-S3	cervix:
16	6:132269655-132282174..6:132349036-132358071	K562	blood:
17	chr6:132334438..132336912-chr6:132342769..132344935,2	MCF-7	breast:
18	6:132176847-132180372..6:132286019-132296348	K562	blood:
19	6:132269655-132282174..6:132298035-132298856	Hela-S3	cervix:
20	6:132182612-132191683..6:132301703-132305703	GM12878	blood:
21	chr6:132272369..132274652-chr6:132305636..132307204,2	MCF-7	breast:
22	6:132182612-132191683..6:132296348-132298035	H1-hESC	embryonic stem cell:	embryo
23	6:132269655-132282174..6:132317980-132319790	H1-hESC	embryonic stem cell:	embryo
24	6:132269655-132282174..6:132317180-132317980	H1-hESC	embryonic stem cell:	embryo
25	6:132269655-132282174..6:132326365-132328366	H1-hESC	embryonic stem cell:	embryo
26	chr6:132271245..132273331-chr6:132345025..132346642,2	MCF-7	breast:
27	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:
28	6:132269655-132282174..6:132341777-132344161	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000197594	chromatin interactions
ENSG00000079931	chromatin interactions
ENSG00000118523	chromatin interactions
ENSG00000227220	chromatin interactions

Extended variants
information (count: 2064 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2064 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11154654	chr6:132291785-132291786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147505693	chr6:132291793-132291794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545861168	chr6:132291804-132291805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563958551	chr6:132291812-132291813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140110287	chr6:132291816-132291817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542584601	chr6:132291834-132291835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs6925916	chr6:132291895-132291896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569211778	chr6:132292000-132292001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530289650	chr6:132292072-132292073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145655071	chr6:132292094-132292095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573667474	chr6:132292095-132292096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566721051	chr6:132292101-132292102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs17060912	chr6:132292181-132292182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558995265	chr6:132292182-132292183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2039439	chr6:132292210-132292211	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150703256	chr6:132292224-132292225	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561122737	chr6:132292263-132292264	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145537225	chr6:132292265-132292266	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538262359	chr6:132292267-132292268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1930994	chr6:132292269-132292270	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574822556	chr6:132292295-132292296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2039438	chr6:132292319-132292320	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376935695	chr6:132292320-132292321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542140369	chr6:132292365-132292366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78768224	chr6:132292374-132292375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201318136	chr6:132292384-132292385	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572304008	chr6:132292407-132292408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553603782	chr6:132292433-132292434	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139995663	chr6:132292483-132292484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542298762	chr6:132292487-132292488	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1930995	chr6:132292576-132292577	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75542763	chr6:132292630-132292631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149654010	chr6:132292724-132292725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543416605	chr6:132292729-132292730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7767139	chr6:132292781-132292782	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373386027	chr6:132292797-132292798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370608871	chr6:132292876-132292877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530373540	chr6:132292882-132292883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7767582	chr6:132292891-132292892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111623165	chr6:132292936-132292937	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529026329	chr6:132292946-132292947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs114535431	chr6:132292969-132292970	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533516187	chr6:132292993-132292994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552470006	chr6:132292997-132292998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148420527	chr6:132293009-132293010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1930996	chr6:132293064-132293065	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs144063133	chr6:132293077-132293078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568441748	chr6:132293084-132293085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535781845	chr6:132293085-132293086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554123623	chr6:132293086-132293087	Weak transcription	Chromatin interactive region	2 gene(s)	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
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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132276600-132297800	Weak transcription	Ovary	ovary
3	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:132280800-132293800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:132285400-132297800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:132290000-132298000	Weak transcription	Fetal Lung	lung
7	chr6:132291200-132293000	Enhancers	HepG2	liver
8	chr6:132291400-132291800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:132291400-132292000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:132291600-132291800	Enhancers	Fetal Brain Male	brain
11	chr6:132291600-132292200	Enhancers	Liver	Liver
12	chr6:132291600-132292600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:132291600-132292800	Enhancers	Stomach Mucosa	stomach
14	chr6:132292200-132292600	Flanking Active TSS	Liver	Liver
15	chr6:132292600-132292800	Enhancers	Liver	Liver
16	chr6:132292600-132297400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:132292800-132294000	Weak transcription	Liver	Liver
18	chr6:132292800-132301600	Weak transcription	Stomach Mucosa	stomach
19	chr6:132293000-132294000	Weak transcription	HepG2	liver
20	chr6:132293800-132294800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:132294000-132294400	Enhancers	Liver	Liver
22	chr6:132294000-132294600	Enhancers	HepG2	liver
23	chr6:132294400-132297000	Weak transcription	Liver	Liver
24	chr6:132294600-132296600	Weak transcription	HepG2	liver
25	chr6:132294800-132297600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:132296600-132296800	Enhancers	Fetal Kidney	kidney
27	chr6:132296600-132297400	Enhancers	HepG2	liver
28	chr6:132296600-132299200	Enhancers	Osteobl	bone
29	chr6:132296600-132304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:132296800-132301400	Weak transcription	Fetal Kidney	kidney
31	chr6:132297000-132305400	Enhancers	Liver	Liver
32	chr6:132297200-132299000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:132297200-132299000	Enhancers	Fetal Heart	heart
34	chr6:132297400-132298400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:132297400-132298400	Flanking Active TSS	HepG2	liver
36	chr6:132297400-132298600	Enhancers	NH-A	brain
37	chr6:132297400-132298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:132297600-132298000	Enhancers	Fetal Intestine Large	intestine
39	chr6:132297600-132298000	Enhancers	HUVEC	blood vessel
40	chr6:132297600-132298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:132297600-132298600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:132297600-132298600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:132297800-132298000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:132297800-132298200	Enhancers	Aorta	Aorta
45	chr6:132297800-132298200	Enhancers	Ovary	ovary
46	chr6:132297800-132298400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:132297800-132298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:132297800-132298600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:132297800-132298600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:132297800-132298800	Enhancers	Colon Smooth Muscle	Colon

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