Variant report

Variant	nsv1024527
Chromosome Location	chr6:132532941-132571889
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132182612-132191683..6:132539300-132542380	Hela-S3	cervix:
2	6:132182612-132191683..6:132564401-132574898	Hela-S3	cervix:
3	chr6:132529971..132530664-chr6:132539012..132539738,2	MCF-7	breast:
4	6:132176847-132180372..6:132542770-132543792	Hela-S3	cervix:
5	chr6:132236129..132236633-chr6:132539268..132539863,2	MCF-7	breast:
6	chr6:132281702..132282383-chr6:132538997..132539850,2	MCF-7	breast:
7	6:132176847-132180372..6:132547485-132550513	GM12878	blood:
8	6:132269655-132282174..6:132532463-132533382	Hela-S3	cervix:
9	chr6:132549264..132551055-chr6:132553054..132555430,2	K562	blood:
10	6:132269655-132282174..6:132536758-132539300	GM12878	blood:
11	6:132269655-132282174..6:132533382-132536758	H1-hESC	embryonic stem cell:	embryo
12	chr6:132244206..132244737-chr6:132538982..132539610,3	MCF-7	breast:
13	chr6:132270712..132271805-chr6:132538854..132539933,3	MCF-7	breast:
14	6:132176847-132180372..6:132550513-132556576	K562	blood:
15	6:132269655-132282174..6:132563625-132563930	H1-hESC	embryonic stem cell:	embryo
16	6:132269655-132282174..6:132564401-132574898	GM12878	blood:
17	6:132269655-132282174..6:132539300-132542380	GM12878	blood:
18	6:132269655-132282174..6:132559814-132563625	H1-hESC	embryonic stem cell:	embryo
19	6:132269655-132282174..6:132563930-132564401	Hela-S3	cervix:
20	chr6:132549264..132551055-chr6:132553054..132555430,2	K562	blood:
21	6:132182612-132191683..6:132550513-132556576	GM12878	blood:
22	6:132176847-132180372..6:132564401-132574898	K562	blood:
23	chr6:132270948..132272941-chr6:132533172..132535902,2	MCF-7	breast:
24	6:132269655-132282174..6:132542770-132543792	GM12878	blood:
25	6:132182612-132191683..6:132563625-132563930	Hela-S3	cervix:
26	6:132269655-132282174..6:132547485-132550513	GM12878	blood:
27	6:132182612-132191683..6:132556576-132559814	Hela-S3	cervix:
28	6:132269655-132282174..6:132550513-132556576	GM12878	blood:
29	6:132269655-132282174..6:132556576-132559814	GM12878	blood:

No data

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

Extended variants
information (count: 1369 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186313172	chr6:132532999-132533000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113690546	chr6:132533026-132533027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572782004	chr6:132533036-132533037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74705015	chr6:132533069-132533070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565016786	chr6:132533110-132533111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs9373013	chr6:132533139-132533140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532473171	chr6:132533178-132533179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550803462	chr6:132533302-132533303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539020774	chr6:132533319-132533320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549767232	chr6:132533339-132533340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561118064	chr6:132533351-132533352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs371466781	chr6:132533356-132533357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3927419	chr6:132533363-132533364	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563769104	chr6:132533376-132533377	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199975053	chr6:132533439-132533440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377765386	chr6:132533454-132533455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190382350	chr6:132533467-132533468	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535729580	chr6:132533470-132533471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566837043	chr6:132533542-132533543	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538705759	chr6:132533593-132533594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555676395	chr6:132533740-132533741	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552243454	chr6:132533750-132533751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528039028	chr6:132533769-132533770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182889215	chr6:132533825-132533826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538006578	chr6:132533878-132533879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187816393	chr6:132533921-132533922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191380287	chr6:132533932-132533933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534489003	chr6:132534105-132534106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183214325	chr6:132534124-132534125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572790699	chr6:132534144-132534145	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9402390	chr6:132534162-132534163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1321278	chr6:132534173-132534174	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187777888	chr6:132534178-132534179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538643115	chr6:132534217-132534218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530323883	chr6:132534223-132534224	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75759037	chr6:132534230-132534231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191563568	chr6:132534263-132534264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529876441	chr6:132534297-132534298	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs546871197	chr6:132534357-132534358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560227897	chr6:132534412-132534413	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532500080	chr6:132534414-132534415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548840018	chr6:132534419-132534420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114931941	chr6:132534442-132534443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184773920	chr6:132534447-132534448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367970159	chr6:132534472-132534473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537967356	chr6:132534476-132534477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145240773	chr6:132534484-132534485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75223714	chr6:132534528-132534529	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12193928	chr6:132534635-132534636	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149176426	chr6:132534639-132534640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132532000-132535800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:132532200-132537200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:132532400-132536000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:132532600-132537200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:132534000-132534200	Enhancers	Aorta	Aorta
6	chr6:132534200-132536000	Weak transcription	Aorta	Aorta
7	chr6:132535800-132536000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:132536000-132536200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:132536000-132536200	Enhancers	Aorta	Aorta
10	chr6:132536000-132536200	Enhancers	Pancreas	Pancrea
11	chr6:132536000-132536400	Enhancers	Fetal Brain Female	brain
12	chr6:132536000-132537600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:132536200-132537000	Weak transcription	Aorta	Aorta
14	chr6:132536200-132537200	Weak transcription	Pancreas	Pancrea
15	chr6:132536800-132537400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:132536800-132537400	Enhancers	Osteobl	bone
17	chr6:132537000-132537400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:132537000-132537400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:132537000-132537400	Enhancers	HSMM	muscle
20	chr6:132537000-132537400	Enhancers	NHDF-Ad	bronchial
21	chr6:132537200-132537400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:132537200-132537400	Enhancers	Aorta	Aorta
23	chr6:132537200-132537400	Enhancers	Pancreas	Pancrea
24	chr6:132537200-132537800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:132537400-132539000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:132537400-132539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:132537400-132539000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:132537400-132541000	Weak transcription	Osteobl	bone
29	chr6:132538800-132539400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:132538800-132539400	Enhancers	HUVEC	blood vessel
31	chr6:132539000-132539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:132539000-132539800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:132539000-132541400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:132539600-132539800	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:132540400-132540600	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:132541000-132541600	Enhancers	Osteobl	bone
37	chr6:132541000-132541800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:132542800-132543200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:132548000-132550800	Enhancers	Osteobl	bone
40	chr6:132548400-132549200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:132548400-132549400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:132548800-132549400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:132548800-132549400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:132548800-132549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:132548800-132550800	Enhancers	NH-A	brain
46	chr6:132549200-132549600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:132549200-132550800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:132549200-132551000	Enhancers	HSMM	muscle
49	chr6:132549200-132551000	Enhancers	HSMMtube	muscle
50	chr6:132549200-132553000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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