Variant report

Variant	esv1804579
Chromosome Location	chr6:120618914-120658827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:
2	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
3	chr6:120637651..120640363-chr6:120645776..120648161,2	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560595336	chr6:120618951-120618952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531565366	chr6:120618954-120618955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9401229	chr6:120618966-120618967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs571402407	chr6:120618967-120618968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144528828	chr6:120618984-120618985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28549346	chr6:120618990-120618991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114382001	chr6:120618995-120618996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547503017	chr6:120618996-120618997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189210692	chr6:120619006-120619007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545704443	chr6:120619017-120619018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72962645	chr6:120619040-120619041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532081553	chr6:120619059-120619060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148460611	chr6:120619073-120619074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192690588	chr6:120619109-120619110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562571975	chr6:120619139-120619140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577798639	chr6:120619218-120619219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112763452	chr6:120619236-120619237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184155847	chr6:120619238-120619239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188464428	chr6:120619267-120619268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574100862	chr6:120619276-120619277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548631892	chr6:120619278-120619279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377494749	chr6:120619290-120619291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113340409	chr6:120619293-120619294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570318831	chr6:120619294-120619295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563030551	chr6:120619306-120619307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565671041	chr6:120619312-120619313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11153874	chr6:120619356-120619357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531315991	chr6:120619373-120619374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544979696	chr6:120619382-120619383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564902681	chr6:120619395-120619396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181069466	chr6:120619399-120619400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112053154	chr6:120619407-120619408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113976756	chr6:120619455-120619456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2927905	chr6:120619459-120619460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567431225	chr6:120619482-120619483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11153875	chr6:120619490-120619491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534789736	chr6:120619507-120619508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549210753	chr6:120619519-120619520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369563671	chr6:120619563-120619564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182160228	chr6:120620819-120620820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73769744	chr6:120620823-120620824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567717134	chr6:120620826-120620827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61265678	chr6:120620844-120620845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576534087	chr6:120620862-120620863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187338948	chr6:120620900-120620901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145319841	chr6:120620901-120620902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368537108	chr6:120620962-120620963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76279745	chr6:120620972-120620973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76894688	chr6:120620973-120620974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9385126	chr6:120620995-120620996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120617600-120619200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr6:120618000-120619000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:120618400-120619200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:120618400-120619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:120618600-120619000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:120620800-120631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:120628200-120628600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:120628200-120628600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:120651800-120652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:120651800-120652200	Enhancers	HepG2	liver

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