Variant report

Variant	nsv525703
Chromosome Location	chr6:147759534-147767235
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147757442..147759557-chr6:147766686..147769295,2	K562	blood:
2	chr6:147757442..147759557-chr6:147766686..147769295,2	K562	blood:
3	chr6:147750400..147752349-chr6:147759203..147760972,2	K562	blood:
4	chr6:147759337..147760891-chr6:147761627..147763156,2	K562	blood:
5	chr6:147759968..147763538-chr6:147764035..147766961,5	K562	blood:
6	chr6:147762643..147764759-chr6:147769331..147771123,2	K562	blood:
7	chr6:147759968..147763538-chr6:147764035..147766961,5	K562	blood:
8	chr6:147759337..147760891-chr6:147761627..147763156,2	K562	blood:
9	chr6:147759968..147761731-chr6:147764035..147766151,2	K562	blood:
10	chr6:147759968..147761731-chr6:147764035..147766151,2	K562	blood:
11	chr6:147754012..147755874-chr6:147758654..147760515,2	K562	blood:

No data

Extended variants
information (count: 273 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9403856	chr6:147759534-147759535	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	disease
2	rs76712977	chr6:147759543-147759544	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368081476	chr6:147759547-147759548	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540334431	chr6:147759551-147759552	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537485533	chr6:147759611-147759612	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557733382	chr6:147759631-147759632	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189370624	chr6:147759646-147759647	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376732948	chr6:147759683-147759684	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553445111	chr6:147759737-147759738	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573606555	chr6:147759739-147759740	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144471442	chr6:147759797-147759798	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554076897	chr6:147759833-147759834	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573900765	chr6:147759858-147759859	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181701462	chr6:147759875-147759876	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542819118	chr6:147759893-147759894	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542878770	chr6:147759920-147759921	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186050961	chr6:147759923-147759924	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115970141	chr6:147759924-147759925	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368712983	chr6:147759931-147759932	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373134484	chr6:147759935-147759936	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527645780	chr6:147759943-147759944	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562827118	chr6:147759963-147759964	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547700074	chr6:147759994-147759995	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190024809	chr6:147760001-147760002	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561225445	chr6:147760007-147760008	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530265256	chr6:147760012-147760013	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549954039	chr6:147760144-147760145	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117104924	chr6:147760158-147760159	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181285286	chr6:147760174-147760175	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114958350	chr6:147760184-147760185	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564289536	chr6:147760187-147760188	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148435259	chr6:147760223-147760224	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533744524	chr6:147760271-147760272	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554133949	chr6:147760272-147760273	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186337766	chr6:147760286-147760287	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs444776	chr6:147760316-147760317	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182111060	chr6:147760370-147760371	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141611490	chr6:147760385-147760386	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545493238	chr6:147760405-147760406	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186384367	chr6:147760427-147760428	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190833689	chr6:147760469-147760470	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371448254	chr6:147760531-147760532	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116530770	chr6:147760551-147760552	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs183035021	chr6:147760578-147760579	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543662748	chr6:147760589-147760590	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563918488	chr6:147760590-147760591	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532564860	chr6:147760599-147760600	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs188374137	chr6:147760666-147760667	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150518913	chr6:147760699-147760700	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191653152	chr6:147760700-147760701	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	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
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147755800-147763400	Weak transcription	Ovary	ovary
2	chr6:147757400-147762800	Weak transcription	Fetal Stomach	stomach
3	chr6:147758600-147760000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr6:147758800-147761200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr6:147759000-147759800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr6:147759000-147760000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr6:147759000-147760000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr6:147759400-147759800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:147759400-147760000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr6:147759400-147760000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:147759400-147760600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:147759800-147760000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:147759800-147760000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:147759800-147760200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:147759800-147761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:147760000-147760200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:147760000-147760200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr6:147760000-147760200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:147760000-147760400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:147760000-147760400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr6:147760000-147760400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:147760000-147760600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:147760000-147760600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:147760200-147760400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:147760200-147760600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:147760200-147760600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:147760200-147761000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:147760400-147760600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr6:147760400-147760600	Enhancers	Brain Germinal Matrix	brain
30	chr6:147760400-147760800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr6:147760400-147760800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr6:147760400-147761400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr6:147760600-147760800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr6:147760600-147760800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:147760600-147760800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:147760600-147761000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr6:147760600-147761200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr6:147760600-147767200	Weak transcription	Brain Germinal Matrix	brain
39	chr6:147760800-147761000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr6:147760800-147761000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:147760800-147761000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr6:147760800-147761000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr6:147760800-147761000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:147760800-147761000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:147760800-147761200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
46	chr6:147760800-147761600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr6:147761000-147761200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr6:147761000-147761200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr6:147761000-147761400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr6:147761000-147761600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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