Variant report

Variant	esv3404056
Chromosome Location	chr1:169323578-169325326
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	chr1:169325315..169327435-chr1:169453346..169454920,2	MCF-7	breast:
2	chr1:169324847..169326824-chr1:169332989..169335675,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115524369	chr1:169323604-169323605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569246692	chr1:169323625-169323626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149728631	chr1:169323668-169323669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539392310	chr1:169323672-169323673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566887350	chr1:169323738-169323739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534885783	chr1:169323796-169323797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116489995	chr1:169323827-169323828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74532689	chr1:169323852-169323853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145502246	chr1:169323870-169323871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557168062	chr1:169323872-169323873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148853968	chr1:169323882-169323883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188466207	chr1:169323888-169323889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193232325	chr1:169323903-169323904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35180550	chr1:169323951-169323952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572529420	chr1:169323959-169323960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148642116	chr1:169323961-169323962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71121770	chr1:169323962-169323963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199517087	chr1:169324020-169324021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185690780	chr1:169324035-169324036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34095348	chr1:169324048-169324049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574319143	chr1:169324076-169324077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137907453	chr1:169324099-169324100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200913465	chr1:169324113-169324114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12742307	chr1:169324143-169324144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12738203	chr1:169324144-169324145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12738211	chr1:169324151-169324152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12738217	chr1:169324158-169324159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544772865	chr1:169324187-169324188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12742330	chr1:169324196-169324197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564761879	chr1:169324205-169324206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527538846	chr1:169324209-169324210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12738248	chr1:169324213-169324214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12738256	chr1:169324225-169324226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12742459	chr1:169324245-169324246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12742460	chr1:169324247-169324248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372512234	chr1:169324267-169324268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563132472	chr1:169324280-169324281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533234564	chr1:169324281-169324282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191602908	chr1:169324298-169324299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111214370	chr1:169324300-169324301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183781460	chr1:169324323-169324324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188511076	chr1:169324328-169324329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181322665	chr1:169324358-169324359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186849673	chr1:169324383-169324384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190088133	chr1:169324388-169324389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36170112	chr1:169324400-169324401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547297089	chr1:169324436-169324437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561274201	chr1:169324443-169324444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36194976	chr1:169324462-169324463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187422069	chr1:169324463-169324464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
4	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:169309400-169336400	Weak transcription	Ovary	ovary
6	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:169317000-169336400	Weak transcription	Pancreas	Pancrea
10	chr1:169317200-169333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:169317800-169332800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:169317800-169333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169317800-169335800	Weak transcription	Fetal Lung	lung
14	chr1:169318000-169332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:169318200-169334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:169324600-169325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:169324600-169335800	Weak transcription	Primary T cells from cord blood	blood
18	chr1:169324800-169325200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:169324800-169325600	Enhancers	K562	blood
20	chr1:169325000-169331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:169325200-169325600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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