Variant report

Variant	esv3512737
Chromosome Location	chr1:225034620-225038453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225037838..225040570-chr1:225044190..225046369,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376040596	chr1:225034640-225034641	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182990637	chr1:225034641-225034642	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148812728	chr1:225034653-225034654	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143991750	chr1:225034710-225034711	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188691311	chr1:225034786-225034787	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74228661	chr1:225034875-225034876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146516636	chr1:225034958-225034959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192589831	chr1:225034970-225034971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12745558	chr1:225035003-225035004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543594183	chr1:225035016-225035017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374428004	chr1:225035039-225035040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557417694	chr1:225035115-225035116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558518472	chr1:225035118-225035119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577022525	chr1:225035184-225035185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182918618	chr1:225035205-225035206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113797782	chr1:225035209-225035210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560083087	chr1:225035324-225035325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572132321	chr1:225035426-225035427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576997676	chr1:225035438-225035439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12023355	chr1:225035473-225035474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553324462	chr1:225035482-225035483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141159282	chr1:225035531-225035532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74868807	chr1:225035539-225035540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541854002	chr1:225035584-225035585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550300387	chr1:225035585-225035586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144761237	chr1:225035607-225035608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538691333	chr1:225035611-225035612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200204977	chr1:225035621-225035622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187520885	chr1:225035639-225035640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192333565	chr1:225035641-225035642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548131103	chr1:225035651-225035652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544019208	chr1:225035661-225035662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566403664	chr1:225035738-225035739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536219945	chr1:225035816-225035817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564195138	chr1:225035904-225035905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370934344	chr1:225035910-225035911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532626842	chr1:225035913-225035914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575274576	chr1:225035923-225035924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184707336	chr1:225035928-225035929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74396842	chr1:225035952-225035953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189981527	chr1:225035984-225035985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112108439	chr1:225035985-225035986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150746874	chr1:225036052-225036053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576995841	chr1:225036090-225036091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200475933	chr1:225036188-225036189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548182161	chr1:225036218-225036219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534581397	chr1:225036220-225036221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12752694	chr1:225036244-225036245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12734055	chr1:225036245-225036246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112278756	chr1:225036288-225036289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225028600-225039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:225033800-225034800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:225033800-225034800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:225033800-225035000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:225034800-225039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:225034800-225039400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:225035000-225035800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:225035800-225036200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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