Variant report

Variant	nsv524214
Chromosome Location	chr6:80853873-80892427
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80879254..80880915-chr6:80881613..80884278,2	MCF-7	breast:
2	chr6:80873458..80875750-chr6:80890518..80893234,2	MCF-7	breast:
3	chr6:80873495..80875635-chr6:80887027..80889000,2	MCF-7	breast:
4	chr6:80873532..80876462-chr6:80884285..80886201,2	MCF-7	breast:
5	chr6:80871451..80873954-chr6:80911341..80913008,2	MCF-7	breast:
6	chr6:80854066..80855794-chr6:80856073..80858618,2	MCF-7	breast:
7	chr6:80862264..80864483-chr6:80875848..80878156,2	K562	blood:
8	chr6:80879254..80880915-chr6:80881613..80884278,2	MCF-7	breast:
9	chr6:80887382..80889174-chr6:80899148..80901683,2	MCF-7	breast:
10	chr6:80873458..80875750-chr6:80890518..80893234,2	MCF-7	breast:
11	chr6:80855189..80858179-chr6:80862381..80863912,2	K562	blood:
12	chr6:80888084..80890010-chr6:80891656..80894939,3	K562	blood:
13	chr6:80873495..80875635-chr6:80887027..80889000,2	MCF-7	breast:
14	chr6:80862264..80864483-chr6:80875848..80878156,2	K562	blood:
15	chr6:80855189..80858179-chr6:80862381..80863912,2	K562	blood:
16	chr6:80888084..80890010-chr6:80891656..80894939,3	K562	blood:
17	chr6:80854066..80855794-chr6:80856073..80858618,2	MCF-7	breast:
18	chr6:80873532..80876462-chr6:80884285..80886201,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083123	chromatin interactions

Extended variants
information (count: 1477 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1477 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2490243	chr6:80853873-80853874	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538717922	chr6:80853912-80853913	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186566449	chr6:80853923-80853924	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575596290	chr6:80853968-80853969	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544582898	chr6:80853971-80853972	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557324860	chr6:80853987-80853988	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139943416	chr6:80854010-80854011	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs56108475	chr6:80854027-80854028	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559558101	chr6:80854071-80854072	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528205919	chr6:80854085-80854086	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544733573	chr6:80854161-80854162	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113904567	chr6:80854272-80854273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564989825	chr6:80854274-80854275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145473344	chr6:80854298-80854299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147818698	chr6:80854334-80854335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549914850	chr6:80854335-80854336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569056904	chr6:80854365-80854366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141370470	chr6:80854387-80854388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530295593	chr6:80854388-80854389	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546800365	chr6:80854389-80854390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372100933	chr6:80854426-80854427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528910560	chr6:80854459-80854460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10080237	chr6:80854470-80854471	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs77490519	chr6:80854484-80854485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78349590	chr6:80854494-80854495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569316919	chr6:80854498-80854499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539564151	chr6:80854515-80854516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537877600	chr6:80854553-80854554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145141237	chr6:80854569-80854570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559320884	chr6:80854610-80854611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574002195	chr6:80854620-80854621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190480122	chr6:80854649-80854650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553209899	chr6:80854655-80854656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573002328	chr6:80854731-80854732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545178916	chr6:80854737-80854738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571052818	chr6:80854744-80854745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564865282	chr6:80854809-80854810	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201349873	chr6:80854817-80854818	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200073574	chr6:80854822-80854823	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575278509	chr6:80854910-80854911	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183049101	chr6:80855034-80855035	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538040360	chr6:80855046-80855047	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560506999	chr6:80855095-80855096	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs141003466	chr6:80855132-80855133	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530329086	chr6:80855169-80855170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186251514	chr6:80855257-80855258	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560404224	chr6:80855258-80855259	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532627230	chr6:80855287-80855288	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556456366	chr6:80855313-80855314	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77253932	chr6:80855336-80855337	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80818000-80861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:80818000-80866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:80836400-80855800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:80836400-80863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:80836400-80891200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:80837000-80895200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:80837400-80854200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:80838600-80857400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:80838600-80873200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:80839200-80873200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:80839200-80889600	Weak transcription	Lung	lung
12	chr6:80839600-80857600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:80839600-80859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:80840000-80860800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:80840200-80855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:80841000-80859200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:80841000-80860800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:80841200-80854600	Weak transcription	Ovary	ovary
19	chr6:80841200-80855600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:80841200-80861400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:80841200-80895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:80841400-80873400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:80842200-80854800	Weak transcription	Left Ventricle	heart
24	chr6:80842200-80914200	Weak transcription	Primary B cells from cord blood	blood
25	chr6:80843400-80857400	Weak transcription	Dnd41	blood
26	chr6:80844200-80861400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:80844200-80873200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:80846400-80861400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:80846800-80854200	Weak transcription	Liver	Liver
30	chr6:80847800-80860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:80851400-80859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:80851600-80858400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:80852000-80854800	Enhancers	Fetal Lung	lung
34	chr6:80852000-80855000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:80852000-80855400	Enhancers	Fetal Stomach	stomach
36	chr6:80852200-80854400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:80852200-80855400	Enhancers	HSMM	muscle
38	chr6:80852200-80856000	Enhancers	Fetal Heart	heart
39	chr6:80852400-80854800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:80852400-80855600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:80852600-80854400	Enhancers	NHLF	lung
42	chr6:80852800-80854000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:80852800-80854000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr6:80852800-80854000	Enhancers	HMEC	breast
45	chr6:80852800-80854400	Enhancers	Stomach Mucosa	stomach
46	chr6:80852800-80855600	Enhancers	Right Ventricle	heart
47	chr6:80853000-80854000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:80853000-80854000	Enhancers	HUVEC	blood vessel
49	chr6:80853000-80854200	Weak transcription	Aorta	Aorta
50	chr6:80853000-80855200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links