Variant report

Variant	esv3410855
Chromosome Location	chr1:98172764-98178562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191809335	chr1:98172821-98172822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183288984	chr1:98172825-98172826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527328561	chr1:98172831-98172832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72977717	chr1:98172845-98172846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376281789	chr1:98172846-98172847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567026681	chr1:98172849-98172850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201632447	chr1:98172854-98172855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369155800	chr1:98172895-98172896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113728961	chr1:98172916-98172917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536421134	chr1:98172953-98172954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535849971	chr1:98172983-98172984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555441774	chr1:98173034-98173035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549727711	chr1:98173096-98173097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188264286	chr1:98173119-98173120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538550572	chr1:98173150-98173151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192598990	chr1:98173201-98173202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578040102	chr1:98173237-98173238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12071499	chr1:98173242-98173243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142103605	chr1:98173243-98173244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536976194	chr1:98173267-98173268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574065825	chr1:98173338-98173339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182341786	chr1:98173352-98173353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562919359	chr1:98173354-98173355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576623334	chr1:98173420-98173421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186727529	chr1:98173425-98173426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565247748	chr1:98173490-98173491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527248607	chr1:98173498-98173499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556719263	chr1:98173567-98173568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547013127	chr1:98173569-98173570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192600256	chr1:98173595-98173596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184900176	chr1:98173601-98173602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549879307	chr1:98173659-98173660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569739261	chr1:98173685-98173686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538833325	chr1:98173724-98173725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146218405	chr1:98173729-98173730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566000502	chr1:98173761-98173762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61790063	chr1:98173801-98173802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78772230	chr1:98173808-98173809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190148288	chr1:98173838-98173839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35046170	chr1:98173881-98173882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371835347	chr1:98173907-98173908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536344950	chr1:98173961-98173962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4615876	chr1:98173973-98173974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376083007	chr1:98173977-98173978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193163871	chr1:98173985-98173986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545488561	chr1:98174020-98174021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549763043	chr1:98174023-98174024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61790064	chr1:98174034-98174035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185059507	chr1:98174104-98174105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541361674	chr1:98174107-98174108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98136200-98188800	Weak transcription	Left Ventricle	heart
2	chr1:98141800-98185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:98144000-98176600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:98148000-98192800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:98153400-98187800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:98157200-98175800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:98160200-98183200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:98160400-98182800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:98163200-98185400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:98165800-98180200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:98166000-98175400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:98166000-98183200	Weak transcription	Liver	Liver
13	chr1:98166200-98186800	Weak transcription	HSMM	muscle
14	chr1:98167400-98175400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:98167400-98183000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:98167400-98185000	Weak transcription	NHDF-Ad	bronchial
17	chr1:98171600-98185400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:98172200-98182600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:98172600-98185400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:98173400-98182600	Weak transcription	Dnd41	blood
21	chr1:98173400-98185200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:98175400-98176600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:98175400-98176800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:98175400-98185200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:98176400-98188200	Weak transcription	Right Ventricle	heart
26	chr1:98176600-98177200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:98176600-98177200	Enhancers	HUVEC	blood vessel
28	chr1:98176600-98179800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:98176800-98177000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:98176800-98179600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:98177000-98188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:98177200-98185800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:98177200-98254600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:98177600-98185400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:98177800-98183200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:98178200-98184200	Weak transcription	Esophagus	oesophagus

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