Variant report

Variant	nsv348798
Chromosome Location	chr6:134475504-134485232
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134478021..134478547-chr6:135143850..135144359,2	MCF-7	breast:
2	chr6:134476543..134479097-chr6:134494526..134496856,2	K562	blood:
3	chr6:134477666..134478438-chr6:135203278..135204536,4	MCF-7	breast:
4	chr6:134477847..134480487-chr6:134481684..134484285,2	MCF-7	breast:
5	chr6:134477662..134478512-chr6:135262076..135262606,2	MCF-7	breast:
6	chr6:134477787..134478541-chr6:134962160..134962719,2	K562	blood:
7	chr6:134477612..134478176-chr6:135203347..135204219,2	K562	blood:
8	chr6:134476676..134478373-chr6:135143716..135146173,2	K562	blood:
9	chr6:134478075..134478587-chr6:135143817..135144754,2	MCF-7	breast:
10	chr6:134470302..134473114-chr6:134476230..134478475,2	K562	blood:
11	chr6:134483252..134485007-chr6:135282156..135284553,2	K562	blood:
12	chr6:134480210..134482373-chr6:134495291..134497320,2	K562	blood:
13	chr6:134477664..134478623-chr6:135143781..135144938,5	K562	blood:
14	chr6:134477847..134480487-chr6:134481684..134484285,2	MCF-7	breast:
15	chr6:134432309..134432838-chr6:134478041..134478686,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118515	chromatin interactions
ENSG00000240056	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528069671	chr6:134476569-134476570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181944385	chr6:134476587-134476588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570918574	chr6:134476619-134476620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374231295	chr6:134476620-134476621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538379885	chr6:134476624-134476625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536711257	chr6:134476635-134476636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550670301	chr6:134476648-134476649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113828817	chr6:134476714-134476715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542694662	chr6:134476727-134476728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567736798	chr6:134476756-134476757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536884571	chr6:134476777-134476778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553692873	chr6:134476818-134476819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150980519	chr6:134476972-134476973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1540941	chr6:134477013-134477014	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1540940	chr6:134477053-134477054	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575724472	chr6:134477070-134477071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140811377	chr6:134477102-134477103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555076797	chr6:134477137-134477138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187465202	chr6:134477140-134477141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1540939	chr6:134477154-134477155	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559220726	chr6:134477209-134477210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371922184	chr6:134477213-134477214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528328320	chr6:134477260-134477261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544916450	chr6:134477266-134477267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369489443	chr6:134477311-134477312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377694418	chr6:134477336-134477337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144540102	chr6:134477394-134477395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190384197	chr6:134477420-134477421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2181171	chr6:134477468-134477469	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115651211	chr6:134477529-134477530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556380671	chr6:134477625-134477626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147838338	chr6:134477626-134477627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9385678	chr6:134477654-134477655	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564377354	chr6:134477749-134477750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142369417	chr6:134477771-134477772	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182978469	chr6:134477866-134477867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540555155	chr6:134477937-134477938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57365445	chr6:134477938-134477939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs398066295	chr6:134477940-134477941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554757649	chr6:134478040-134478041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186954202	chr6:134478046-134478047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540336934	chr6:134478047-134478048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552714280	chr6:134478058-134478059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572719656	chr6:134478159-134478160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146355259	chr6:134478219-134478220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190271241	chr6:134478236-134478237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs530414566	chr6:134478289-134478290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544241014	chr6:134478384-134478385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560723876	chr6:134478479-134478480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529755819	chr6:134478488-134478489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134476800-134495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:134478200-134479000	Enhancers	Hela-S3	cervix
3	chr6:134479000-134481200	Weak transcription	Hela-S3	cervix
4	chr6:134480200-134487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:134480200-134495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:134480800-134482200	Weak transcription	Fetal Kidney	kidney
7	chr6:134481200-134481600	Enhancers	Hela-S3	cervix
8	chr6:134481200-134482200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:134481400-134481600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr6:134481400-134481600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:134481400-134481800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:134481400-134482000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:134481400-134482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:134481400-134482800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:134481400-134482800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:134481400-134483000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:134481400-134483000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:134481400-134483200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:134481400-134484800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:134481600-134481800	Flanking Active TSS	Hela-S3	cervix
21	chr6:134481600-134482000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:134481600-134482000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:134481600-134482200	Enhancers	NHDF-Ad	bronchial
24	chr6:134481600-134483000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:134481600-134483000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:134481600-134483000	Enhancers	Fetal Intestine Large	intestine
27	chr6:134481800-134482000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:134481800-134482000	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:134481800-134482000	Enhancers	Hela-S3	cervix
30	chr6:134481800-134482200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:134481800-134482600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:134481800-134482600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:134481800-134482800	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:134481800-134483000	Enhancers	HMEC	breast
35	chr6:134482000-134482200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:134482000-134482200	Flanking Active TSS	Hela-S3	cervix
37	chr6:134482000-134482200	Enhancers	HSMM	muscle
38	chr6:134482000-134482200	Enhancers	K562	blood
39	chr6:134482000-134482400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:134482000-134482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:134482000-134482600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:134482000-134482600	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:134482000-134482600	Enhancers	Osteobl	bone
44	chr6:134482000-134482800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:134482000-134482800	Enhancers	A549	lung
46	chr6:134482000-134482800	Enhancers	NH-A	brain
47	chr6:134482000-134483000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:134482000-134483000	Enhancers	Fetal Intestine Small	intestine
49	chr6:134482200-134482400	Enhancers	Fetal Kidney	kidney
50	chr6:134482200-134482600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links