Variant report

Variant	esv3374467
Chromosome Location	chr1:175086165-175087783
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	chr1:175077506..175079418-chr1:175085244..175087503,2	K562	blood:
2	chr1:175080162..175082103-chr1:175085458..175088107,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371486038	chr1:175086176-175086177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537008413	chr1:175086177-175086178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143276862	chr1:175086181-175086182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557069856	chr1:175086184-175086185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373529382	chr1:175086189-175086190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140245553	chr1:175086190-175086191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377310021	chr1:175086196-175086197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577512954	chr1:175086206-175086207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111972436	chr1:175086216-175086217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199995910	chr1:175086217-175086218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs267598182	chr1:175086222-175086223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74731074	chr1:175086235-175086236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201010782	chr1:175086249-175086250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201894787	chr1:175086250-175086251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150139735	chr1:175086252-175086253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376477062	chr1:175086259-175086260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138969989	chr1:175086262-175086263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574491379	chr1:175086268-175086269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543482646	chr1:175086276-175086277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200995718	chr1:175086277-175086278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370640670	chr1:175086280-175086281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143067583	chr1:175086283-175086284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147066934	chr1:175086284-175086285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373158145	chr1:175086352-175086353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375480936	chr1:175086406-175086407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552040175	chr1:175086422-175086423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377647895	chr1:175086423-175086424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6690229	chr1:175086461-175086462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs552154988	chr1:175086475-175086476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373834419	chr1:175086478-175086479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559524448	chr1:175086557-175086558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550444012	chr1:175086683-175086684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548287431	chr1:175086701-175086702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183545864	chr1:175086709-175086710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530909792	chr1:175086738-175086739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550981313	chr1:175086845-175086846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186381970	chr1:175086876-175086877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528546121	chr1:175086892-175086893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540140633	chr1:175086897-175086898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34900154	chr1:175086908-175086909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566964109	chr1:175086911-175086912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142319178	chr1:175086952-175086953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7546260	chr1:175086965-175086966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs115573729	chr1:175086981-175086982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574630213	chr1:175086982-175086983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370620066	chr1:175087010-175087011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145946161	chr1:175087036-175087037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572861601	chr1:175087042-175087043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556934201	chr1:175087044-175087045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576737210	chr1:175087065-175087066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175084600-175095600	Weak transcription	Right Atrium	heart
2	chr1:175084800-175086200	Enhancers	Fetal Intestine Small	intestine
3	chr1:175084800-175086400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:175084800-175087800	Weak transcription	Pancreas	Pancrea
5	chr1:175084800-175093800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:175084800-175097000	Weak transcription	Gastric	stomach
7	chr1:175085000-175087600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:175085800-175086400	Enhancers	Fetal Intestine Large	intestine
9	chr1:175086000-175086200	Enhancers	GM12878-XiMat	blood
10	chr1:175086000-175086400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:175086000-175086400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:175086200-175087200	Weak transcription	GM12878-XiMat	blood
13	chr1:175086400-175099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:175087200-175088200	Enhancers	GM12878-XiMat	blood
15	chr1:175087600-175088000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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