Variant report

Variant	esv274991
Chromosome Location	chr1:176256617-176268044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531548328	chr1:176256620-176256621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551147409	chr1:176256622-176256623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs192479552	chr1:176256673-176256674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533692050	chr1:176256730-176256731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116646534	chr1:176256770-176256771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs530744177	chr1:176256781-176256782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543446532	chr1:176258651-176258652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557303137	chr1:176258660-176258661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577190478	chr1:176258661-176258662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549567626	chr1:176258723-176258724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189482256	chr1:176258746-176258747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558589370	chr1:176258767-176258768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs352312	chr1:176258787-176258788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181860404	chr1:176258788-176258789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185874995	chr1:176258841-176258842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141751792	chr1:176258859-176258860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543568573	chr1:176258864-176258865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563263680	chr1:176258967-176258968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191673162	chr1:176258991-176258992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552796052	chr1:176258993-176258994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559797961	chr1:176259021-176259022	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs352311	chr1:176259030-176259031	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79380512	chr1:176259049-176259050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550337557	chr1:176259079-176259080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567156647	chr1:176259087-176259088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550811927	chr1:176259091-176259092	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570787440	chr1:176259137-176259138	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115391273	chr1:176259167-176259168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142125972	chr1:176259184-176259185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139607607	chr1:176259222-176259223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572362898	chr1:176259263-176259264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546310477	chr1:176259323-176259324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11804865	chr1:176259333-176259334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs55743060	chr1:176259345-176259346	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183073107	chr1:176259360-176259361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs574703797	chr1:176259394-176259395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186405797	chr1:176259462-176259463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569445164	chr1:176259491-176259492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563246888	chr1:176259521-176259522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576725717	chr1:176259526-176259527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545478120	chr1:176259527-176259528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191095637	chr1:176259533-176259534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559339471	chr1:176259553-176259554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528739814	chr1:176259578-176259579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548493768	chr1:176259599-176259600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149324658	chr1:176259610-176259611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4650938	chr1:176259611-176259612	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182426480	chr1:176259624-176259625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570856102	chr1:176259647-176259648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531211179	chr1:176259658-176259659	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176256600-176256800	ZNF genes & repeats	Brain Hippocampus Middle	brain
2	chr1:176258600-176259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:176259000-176259800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links