Variant report

Variant	esv3441241
Chromosome Location	chr1:173083567-173085073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140600124	chr1:173083579-173083580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530795468	chr1:173083608-173083609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552193493	chr1:173083630-173083631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532270045	chr1:173083632-173083633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79224110	chr1:173083638-173083639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534845411	chr1:173083661-173083662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546693426	chr1:173083720-173083721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568204978	chr1:173083766-173083767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532281922	chr1:173083812-173083813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561017271	chr1:173083816-173083817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556874901	chr1:173083819-173083820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12758183	chr1:173083844-173083845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182237571	chr1:173083889-173083890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186962778	chr1:173083900-173083901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537723177	chr1:173083950-173083951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61826327	chr1:173084007-173084008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111536586	chr1:173084017-173084018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577008761	chr1:173084077-173084078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12743990	chr1:173084083-173084084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116423123	chr1:173084089-173084090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373849113	chr1:173084098-173084099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12406059	chr1:173084169-173084170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532185663	chr1:173084172-173084173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142824942	chr1:173084204-173084205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34931839	chr1:173084218-173084219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190651425	chr1:173084242-173084243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182386966	chr1:173084284-173084285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551718944	chr1:173084309-173084310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151336719	chr1:173084311-173084312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28488605	chr1:173084314-173084315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12757847	chr1:173084377-173084378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185473187	chr1:173084433-173084434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528288826	chr1:173084470-173084471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114702736	chr1:173084560-173084561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147218719	chr1:173084570-173084571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546856523	chr1:173084574-173084575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568270002	chr1:173084576-173084577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60750682	chr1:173084600-173084601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76292126	chr1:173084601-173084602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528934702	chr1:173084606-173084607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182254031	chr1:173084649-173084650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568801858	chr1:173084654-173084655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539096449	chr1:173084660-173084661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12088676	chr1:173084661-173084662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570857451	chr1:173084672-173084673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139633300	chr1:173084704-173084705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187712740	chr1:173084711-173084712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17300100	chr1:173084744-173084745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534300278	chr1:173084779-173084780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149908262	chr1:173084823-173084824	Weak transcription	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
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
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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173080400-173083800	Enhancers	Primary B cells from cord blood	blood
2	chr1:173080400-173084000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:173080600-173083800	Enhancers	HUVEC	blood vessel
4	chr1:173081000-173083800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:173081200-173084000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:173081200-173084000	Enhancers	NHEK	skin
7	chr1:173081600-173083600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:173081600-173083600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:173081600-173091200	Weak transcription	NHDF-Ad	bronchial
10	chr1:173081800-173083600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:173082400-173091200	Weak transcription	NHLF	lung
12	chr1:173082800-173086400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:173082800-173091000	Weak transcription	HSMM	muscle
14	chr1:173083200-173083600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:173083600-173083800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:173083600-173083800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:173083600-173083800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:173083600-173084000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:173083600-173084400	Enhancers	Fetal Intestine Large	intestine
20	chr1:173083800-173086400	Weak transcription	Primary B cells from cord blood	blood
21	chr1:173083800-173086400	Weak transcription	HUVEC	blood vessel
22	chr1:173084000-173085800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:173084000-173085800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:173084400-173091000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:173085000-173085200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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