Variant report

Variant	esv3508564
Chromosome Location	chr1:239895471-239896118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs860928	chr1:239895496-239895497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531889120	chr1:239895509-239895510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs844531	chr1:239895548-239895549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12143756	chr1:239895561-239895562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12144568	chr1:239895567-239895568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10925957	chr1:239895574-239895575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556281158	chr1:239895584-239895585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12029745	chr1:239895600-239895601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568112333	chr1:239895610-239895611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12047381	chr1:239895613-239895614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12048136	chr1:239895619-239895620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12125105	chr1:239895626-239895627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71166889	chr1:239895635-239895636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34092911	chr1:239895636-239895637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111590075	chr1:239895639-239895640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112187675	chr1:239895645-239895646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369025754	chr1:239895662-239895663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10925959	chr1:239895678-239895679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113166779	chr1:239895748-239895749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554156745	chr1:239895766-239895767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372562724	chr1:239895818-239895819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71535322	chr1:239895860-239895861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35579177	chr1:239895870-239895871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111361921	chr1:239895886-239895887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12029860	chr1:239895912-239895913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34595978	chr1:239895922-239895923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34861023	chr1:239895938-239895939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35479851	chr1:239895964-239895965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113053367	chr1:239895990-239895991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568350690	chr1:239896002-239896003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376865435	chr1:239896004-239896005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10925960	chr1:239896016-239896017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113127033	chr1:239896030-239896031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74899822	chr1:239896042-239896043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35161403	chr1:239896052-239896053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76767106	chr1:239896056-239896057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12029883	chr1:239896068-239896069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542096111	chr1:239896079-239896080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35467034	chr1:239896082-239896083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34961722	chr1:239896094-239896095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201157721	chr1:239896103-239896104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369893823	chr1:239896104-239896105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
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
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239885600-239905600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:239886800-239908200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:239889000-239949800	Weak transcription	Pancreas	Pancrea
4	chr1:239891200-239918400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:239891600-239898000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:239895000-239896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:239895200-239897200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:239895200-239898400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:239895200-239901400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:239895400-239897200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:239895800-239898200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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