Variant report

Variant	nsv519191
Chromosome Location	chr1:97945292-98000861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:
2	chr1:97603769..97604477-chr1:97990784..97991664,2	MCF-7	breast:
3	chr1:97658017..97658973-chr1:97991101..97992019,3	MCF-7	breast:
4	chr1:97951367..97953708-chr1:97954168..97957198,3	K562	blood:

Extended variants
information (count: 2117 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2117 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs945881	chr1:97945292-97945293	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536010572	chr1:97945302-97945303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531137227	chr1:97945339-97945340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555613432	chr1:97945385-97945386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376809840	chr1:97945391-97945392	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575671238	chr1:97945415-97945416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35558163	chr1:97945486-97945487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544787811	chr1:97945504-97945505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544245379	chr1:97945512-97945513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564129149	chr1:97945557-97945558	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531478350	chr1:97945574-97945575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564707778	chr1:97945581-97945582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534973510	chr1:97945670-97945671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545695038	chr1:97945681-97945682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558155507	chr1:97945733-97945734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61789180	chr1:97945793-97945794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547116003	chr1:97945971-97945972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148343808	chr1:97945973-97945974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548353971	chr1:97945986-97945987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs950467	chr1:97946041-97946042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530628643	chr1:97946044-97946045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141510002	chr1:97946060-97946061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185722384	chr1:97946067-97946068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527330323	chr1:97946111-97946112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547331296	chr1:97946140-97946141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150332672	chr1:97946144-97946145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34132621	chr1:97946145-97946146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137931267	chr1:97946170-97946171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555923602	chr1:97946183-97946184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575688585	chr1:97946188-97946189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537959412	chr1:97946214-97946215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557784302	chr1:97946303-97946304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577637015	chr1:97946334-97946335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537799993	chr1:97946432-97946433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77146944	chr1:97946439-97946440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55865801	chr1:97946461-97946462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559425280	chr1:97946472-97946473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370616096	chr1:97946484-97946485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190542914	chr1:97946488-97946489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181646941	chr1:97946496-97946497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561912955	chr1:97946535-97946536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185925624	chr1:97946554-97946555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550715340	chr1:97946580-97946581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372907477	chr1:97946674-97946675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564133542	chr1:97946705-97946706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532988887	chr1:97946742-97946743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202089820	chr1:97946790-97946791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11165880	chr1:97946840-97946841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567098137	chr1:97946866-97946867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145922945	chr1:97946868-97946869	Weak transcription	n/a	n/a	Overlapped CNVs	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:272 , 50 per page) page: 1 2 3 4 5 6

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	chr1:97904200-97946800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:97910000-97954000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:97928600-98018200	Weak transcription	Ovary	ovary
6	chr1:97930400-97955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:97930600-97979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:97930800-97946600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:97934400-97951800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:97934400-97955600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:97939600-97955400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:97941200-97950600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:97941600-97948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:97941600-97954400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:97942600-97945800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:97942800-97954400	Weak transcription	Gastric	stomach
17	chr1:97943600-97945600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr1:97943800-97950600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:97944200-97945400	Strong transcription	Primary T cells from cord blood	blood
20	chr1:97944600-97950600	Weak transcription	Liver	Liver
21	chr1:97944600-97952800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:97945000-97946200	Weak transcription	Dnd41	blood
23	chr1:97945200-97945400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:97945200-97974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:97945200-97976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:97945400-97948000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:97945400-97969600	Weak transcription	Primary T cells from cord blood	blood
28	chr1:97945600-97967000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:97948000-97949400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:97948800-97949200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:97949400-97966200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:97951800-97952200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:97952200-97955200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:97953200-97965400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:97953400-97957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:97953800-97955800	Enhancers	HMEC	breast
37	chr1:97954000-97954200	Weak transcription	Psoas Muscle	Psoas
38	chr1:97954000-97954600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:97954000-97955800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:97954000-97955800	Enhancers	NHEK	skin
41	chr1:97954200-97954400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:97954200-97954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:97954200-97954400	Enhancers	Psoas Muscle	Psoas
44	chr1:97954200-97954600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:97954400-97954600	Enhancers	Gastric	stomach
46	chr1:97954400-97955000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:97954400-97955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:97954400-97963600	Weak transcription	Psoas Muscle	Psoas
49	chr1:97955000-97955800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:97955000-97955800	Enhancers	A549	lung

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