Variant report

Variant	esv3692968
Chromosome Location	chr1:174612899-174614291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs392368	chr1:174612899-174612900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374772744	chr1:174612912-174612913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183890679	chr1:174612998-174612999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546844502	chr1:174613048-174613049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144227616	chr1:174613051-174613052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553946714	chr1:174613054-174613055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6703290	chr1:174613056-174613057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549203263	chr1:174613058-174613059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367603827	chr1:174613078-174613079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs68084449	chr1:174613080-174613081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60433266	chr1:174613081-174613082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76972332	chr1:174613083-174613084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75247460	chr1:174613094-174613095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187419971	chr1:174613125-174613126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190695230	chr1:174613212-174613213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140775414	chr1:174613276-174613277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182612988	chr1:174613278-174613279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6703536	chr1:174613295-174613296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72715273	chr1:174613389-174613390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs542958430	chr1:174613426-174613427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187283385	chr1:174613505-174613506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75004962	chr1:174613530-174613531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192306617	chr1:174613590-174613591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150124627	chr1:174613629-174613630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184647458	chr1:174613641-174613642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75696326	chr1:174613656-174613657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560348729	chr1:174613689-174613690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187628092	chr1:174613746-174613747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73026424	chr1:174613758-174613759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536077110	chr1:174613829-174613830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4651114	chr1:174613901-174613902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs79271417	chr1:174613920-174613921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551880309	chr1:174613942-174613943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142818078	chr1:174613978-174613979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534147591	chr1:174613990-174613991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34457051	chr1:174613992-174613993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111632465	chr1:174614053-174614054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572824248	chr1:174614084-174614085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193210263	chr1:174614092-174614093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184788742	chr1:174614143-174614144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554250236	chr1:174614180-174614181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556474991	chr1:174614284-174614285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs402612	chr1:174614291-174614292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174603200-174616000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:174604600-174613800	Weak transcription	Ovary	ovary
3	chr1:174606200-174621600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:174607000-174618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:174607400-174613200	Weak transcription	Primary T cells from cord blood	blood
6	chr1:174607400-174613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:174607600-174613000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:174607600-174613200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:174612000-174615400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:174612400-174638200	Weak transcription	Aorta	Aorta
14	chr1:174613000-174613200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:174613200-174613600	Enhancers	Primary T cells from cord blood	blood
16	chr1:174613200-174613600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:174613400-174613600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:174613400-174613600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:174613600-174637000	Weak transcription	Primary T cells from cord blood	blood

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