Variant report

Variant	nsv432966
Chromosome Location	chr6:145191307-145201307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:
2	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
3	chr6:145195775..145198771-chr6:145199592..145202837,3	K562	blood:
4	chr6:145195775..145198771-chr6:145199592..145202837,3	K562	blood:
5	chr6:145201257..145203488-chr6:145205369..145207840,2	K562	blood:

Extended variants
information (count: 450 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4557541	chr6:145191323-145191324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4568474	chr6:145191341-145191342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542144683	chr6:145191352-145191353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148181587	chr6:145191432-145191433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575810595	chr6:145191434-145191435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545933573	chr6:145191446-145191447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564605401	chr6:145191447-145191448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141216002	chr6:145191449-145191450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192158954	chr6:145191569-145191570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6420778	chr6:145191579-145191580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6906472	chr6:145191588-145191589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576262606	chr6:145191621-145191622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6570653	chr6:145191631-145191632	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533157865	chr6:145191638-145191639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6570654	chr6:145191677-145191678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184179364	chr6:145191680-145191681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551108724	chr6:145191703-145191704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6906822	chr6:145191714-145191715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146404887	chr6:145191716-145191717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566943494	chr6:145191759-145191760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7744950	chr6:145191775-145191776	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs199628945	chr6:145191799-145191800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200633602	chr6:145191800-145191801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201742597	chr6:145191801-145191802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199654645	chr6:145191802-145191803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397941592	chr6:145191806-145191807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74822529	chr6:145191807-145191808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139414454	chr6:145191813-145191814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7744973	chr6:145191822-145191823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7744985	chr6:145191834-145191835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13208561	chr6:145191848-145191849	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573353881	chr6:145191868-145191869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77309789	chr6:145191885-145191886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562029313	chr6:145191900-145191901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552138984	chr6:145191904-145191905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73606408	chr6:145191911-145191912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs367816849	chr6:145191915-145191916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558309316	chr6:145191995-145191996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374159899	chr6:145192001-145192002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369294941	chr6:145192050-145192051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562801399	chr6:145192093-145192094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533118913	chr6:145192107-145192108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75131414	chr6:145192140-145192141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7765793	chr6:145192205-145192206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189976827	chr6:145192209-145192210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548681599	chr6:145192210-145192211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181572040	chr6:145192330-145192331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555086830	chr6:145192335-145192336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574849204	chr6:145192356-145192357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549557548	chr6:145192363-145192364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145177400-145192200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:145185800-145192000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:145188000-145191800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:145189400-145194400	Weak transcription	Osteobl	bone
5	chr6:145189600-145195400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:145189800-145191400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:145189800-145191800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:145190000-145191400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:145190000-145191800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:145191400-145192600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:145191400-145192800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:145191600-145192400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:145191800-145192400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:145191800-145192600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:145191800-145192600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:145191800-145192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:145191800-145193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:145192000-145192200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:145192000-145192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:145192200-145192400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:145192200-145192600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:145192200-145194400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:145192400-145194400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:145192600-145193800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:145192600-145194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:145192800-145193200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:145192800-145194200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:145193400-145194400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:145193800-145195000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr6:145194200-145195200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr6:145194200-145195200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr6:145194200-145195400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr6:145194200-145196200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:145194200-145198400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:145194400-145194600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:145194400-145194800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:145194400-145195200	Enhancers	Osteobl	bone
38	chr6:145194400-145195400	Enhancers	K562	blood
39	chr6:145194400-145196200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:145194600-145194800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr6:145194600-145194800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:145194600-145195400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:145194800-145195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:145195400-145195600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:145195400-145195600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:145195400-145196200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:145195800-145196200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:145195800-145196200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:145196200-145199600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:145199400-145201400	Enhancers	Fetal Heart	heart

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