Variant report

Variant	nsv871449
Chromosome Location	chr1:97950034-97979317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:
2	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:

Extended variants
information (count: 1083 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7545712	chr1:97950034-97950035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538442942	chr1:97950075-97950076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563739531	chr1:97950080-97950081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532584837	chr1:97950101-97950102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192427708	chr1:97950106-97950107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371312454	chr1:97950135-97950136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571565698	chr1:97950148-97950149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184401748	chr1:97950149-97950150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547631791	chr1:97950244-97950245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72729947	chr1:97950295-97950296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536013036	chr1:97950302-97950303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188013163	chr1:97950327-97950328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374178880	chr1:97950350-97950351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537036621	chr1:97950360-97950361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148991578	chr1:97950371-97950372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376595033	chr1:97950372-97950373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547179550	chr1:97950391-97950392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567358020	chr1:97950433-97950434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145792846	chr1:97950434-97950435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370135693	chr1:97950520-97950521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541362565	chr1:97950525-97950526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555215870	chr1:97950547-97950548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137937488	chr1:97950555-97950556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192590470	chr1:97950569-97950570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184516003	chr1:97950570-97950571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188964437	chr1:97950652-97950653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532650847	chr1:97950659-97950660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546261836	chr1:97950686-97950687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181786417	chr1:97950746-97950747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368580369	chr1:97950774-97950775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140860308	chr1:97950785-97950786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567534266	chr1:97950850-97950851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144611971	chr1:97950851-97950852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111747728	chr1:97950853-97950854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529746247	chr1:97950854-97950855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569450674	chr1:97950860-97950861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538355269	chr1:97950872-97950873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6593650	chr1:97950902-97950903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186521793	chr1:97950905-97950906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534576472	chr1:97950911-97950912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554998159	chr1:97950912-97950913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4950037	chr1:97950934-97950935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544077191	chr1:97950945-97950946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554303177	chr1:97950970-97950971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557580999	chr1:97950996-97950997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189765357	chr1:97951042-97951043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372595448	chr1:97951047-97951048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141137360	chr1:97951088-97951089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538620534	chr1:97951096-97951097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4950038	chr1:97951106-97951107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
Williams Syndrome	20824207	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97898800-97960000	Weak transcription	Left Ventricle	heart
3	chr1:97910000-97954000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97928600-98018200	Weak transcription	Ovary	ovary
5	chr1:97930400-97955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:97930600-97979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:97934400-97951800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:97934400-97955600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:97939600-97955400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:97941200-97950600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:97941600-97954400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:97942800-97954400	Weak transcription	Gastric	stomach
13	chr1:97943800-97950600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:97944600-97950600	Weak transcription	Liver	Liver
15	chr1:97944600-97952800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:97945200-97974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:97945200-97976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:97945400-97969600	Weak transcription	Primary T cells from cord blood	blood
19	chr1:97945600-97967000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:97949400-97966200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:97951800-97952200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:97952200-97955200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:97953200-97965400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:97953400-97957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:97953800-97955800	Enhancers	HMEC	breast
26	chr1:97954000-97954200	Weak transcription	Psoas Muscle	Psoas
27	chr1:97954000-97954600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:97954000-97955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:97954000-97955800	Enhancers	NHEK	skin
30	chr1:97954200-97954400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:97954200-97954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:97954200-97954400	Enhancers	Psoas Muscle	Psoas
33	chr1:97954200-97954600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:97954400-97954600	Enhancers	Gastric	stomach
35	chr1:97954400-97955000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:97954400-97955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:97954400-97963600	Weak transcription	Psoas Muscle	Psoas
38	chr1:97955000-97955800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:97955000-97955800	Enhancers	A549	lung
40	chr1:97955000-97955800	Enhancers	HepG2	liver
41	chr1:97955000-97956400	Enhancers	HUVEC	blood vessel
42	chr1:97955200-97955800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:97955400-97955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:97955400-97955800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:97955400-97955800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr1:97955400-97955800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:97955600-97955800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:97955600-97955800	Enhancers	NHDF-Ad	bronchial
49	chr1:97955600-97956400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:97955800-97956000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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