Variant report

Variant	nsv932936
Chromosome Location	chr1:97700205-97700750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545529100	chr1:97700205-97700206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191082538	chr1:97700206-97700207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17432999	chr1:97700245-97700246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183213436	chr1:97700268-97700269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562413743	chr1:97700289-97700290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531063187	chr1:97700302-97700303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147052412	chr1:97700314-97700315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367747399	chr1:97700322-97700323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544905665	chr1:97700329-97700330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533547379	chr1:97700371-97700372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376013657	chr1:97700384-97700385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368147510	chr1:97700403-97700404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371313778	chr1:97700416-97700417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55725052	chr1:97700429-97700430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144271454	chr1:97700432-97700433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147800606	chr1:97700467-97700468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547099198	chr1:97700472-97700473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs267598785	chr1:97700485-97700486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372413776	chr1:97700513-97700514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199634007	chr1:97700514-97700515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374825099	chr1:97700520-97700521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200643089	chr1:97700526-97700527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56005131	chr1:97700547-97700548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568367673	chr1:97700550-97700551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373293488	chr1:97700571-97700572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12137711	chr1:97700589-97700590	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556823198	chr1:97700604-97700605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576654802	chr1:97700620-97700621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138299941	chr1:97700639-97700640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552689858	chr1:97700642-97700643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572809175	chr1:97700646-97700647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541810653	chr1:97700660-97700661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369368388	chr1:97700695-97700696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192173281	chr1:97700709-97700710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575906266	chr1:97700715-97700716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544952067	chr1:97700738-97700739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97691400-97701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:97691400-97702600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:97692800-97703400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:97693000-97701800	Weak transcription	Fetal Lung	lung
5	chr1:97693200-97700800	Weak transcription	Pancreas	Pancrea
6	chr1:97694800-97701000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:97694800-97712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:97696000-97701000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:97697000-97711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:97697200-97710800	Weak transcription	Osteobl	bone
11	chr1:97697400-97700600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:97697400-97700600	Strong transcription	Dnd41	blood
13	chr1:97697400-97711400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:97697800-97700600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:97697800-97700600	Weak transcription	Thymus	Thymus
16	chr1:97697800-97704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:97698000-97708000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:97698200-97700600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:97698200-97701000	Weak transcription	Right Ventricle	heart
20	chr1:97698400-97700600	Strong transcription	HSMM	muscle
21	chr1:97698400-97700800	Strong transcription	Primary B cells from cord blood	blood
22	chr1:97698600-97700600	Strong transcription	Primary T cells from cord blood	blood
23	chr1:97698600-97700600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:97698600-97700600	Strong transcription	Left Ventricle	heart
25	chr1:97698600-97700800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:97698800-97700600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:97698800-97700600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:97698800-97700800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:97699000-97700400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:97699200-97700400	Weak transcription	Spleen	Spleen
31	chr1:97699200-97700800	Weak transcription	Fetal Brain Female	brain
32	chr1:97699200-97701000	Weak transcription	Gastric	stomach
33	chr1:97699200-97702000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:97699200-97702000	Weak transcription	Aorta	Aorta
35	chr1:97699200-97704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:97699200-97710800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:97699400-97701000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:97699400-97701200	Weak transcription	Esophagus	oesophagus
39	chr1:97699400-97701400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:97699400-97701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:97699400-97702000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:97699400-97706800	Weak transcription	Ovary	ovary
43	chr1:97699400-97709400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:97699400-97710800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:97699400-97711000	Weak transcription	Fetal Intestine Large	intestine
46	chr1:97699400-97723600	Weak transcription	Lung	lung
47	chr1:97699600-97701200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:97699600-97701600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:97699600-97702600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:97699600-97710000	Weak transcription	Brain Cingulate Gyrus	brain

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