Variant report

Variant	nsv870601
Chromosome Location	chr1:103352451-103409100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:
2	chr1:103303886..103305574-chr1:103404633..103406434,2	MCF-7	breast:
3	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:

Extended variants
information (count: 2377 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2377 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2229783	chr1:103352451-103352452	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375667862	chr1:103352460-103352461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533761924	chr1:103352472-103352473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3753842	chr1:103352502-103352503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143531636	chr1:103352503-103352504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558265763	chr1:103352512-103352513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138691968	chr1:103352520-103352521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377486490	chr1:103352529-103352530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202048103	chr1:103352544-103352545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144404767	chr1:103352549-103352550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149516921	chr1:103352556-103352557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200462060	chr1:103352559-103352560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558548172	chr1:103352594-103352595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374602203	chr1:103352655-103352656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545867769	chr1:103352705-103352706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576869541	chr1:103352736-103352737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537796854	chr1:103352741-103352742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377712152	chr1:103352748-103352749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11164628	chr1:103352773-103352774	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11164629	chr1:103352801-103352802	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114345888	chr1:103352803-103352804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562274895	chr1:103352806-103352807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143129022	chr1:103352859-103352860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547795042	chr1:103352892-103352893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559663369	chr1:103352895-103352896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148283098	chr1:103352908-103352909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182354593	chr1:103352959-103352960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577489757	chr1:103352978-103352979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141806724	chr1:103352980-103352981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574058925	chr1:103352981-103352982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11164630	chr1:103352995-103352996	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs186667029	chr1:103353005-103353006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567937658	chr1:103353086-103353087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370508619	chr1:103353101-103353102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573250641	chr1:103353132-103353133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12023984	chr1:103353139-103353140	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571986644	chr1:103353165-103353166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539108639	chr1:103353168-103353169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557877429	chr1:103353184-103353185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576164901	chr1:103353189-103353190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543545832	chr1:103353193-103353194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2783568	chr1:103353196-103353197	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183343822	chr1:103353202-103353203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187878326	chr1:103353228-103353229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367853852	chr1:103353234-103353235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533355673	chr1:103353249-103353250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79940764	chr1:103353264-103353265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs563348098	chr1:103353281-103353282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374591974	chr1:103353312-103353313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373809049	chr1:103353382-103353383	Weak transcription Strong 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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103343400-103355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
5	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
6	chr1:103345600-103385600	Weak transcription	HSMMtube	muscle
7	chr1:103345800-103357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:103346200-103357400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:103346200-103357400	Weak transcription	NH-A	brain
10	chr1:103348200-103357400	Weak transcription	HSMM	muscle
11	chr1:103348200-103357400	Weak transcription	Osteobl	bone
12	chr1:103349800-103356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:103350000-103369400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:103350200-103353400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:103350400-103354000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:103350400-103355400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:103350400-103380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:103350800-103378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:103351600-103352600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:103352000-103352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:103352000-103352600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:103352000-103352600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:103352000-103352600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:103352200-103352600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:103352200-103352800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:103352200-103353000	Enhancers	HMEC	breast
27	chr1:103352200-103354800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:103352200-103355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:103352400-103352600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:103352400-103352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:103352400-103353200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:103352600-103354000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:103352600-103354600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:103352600-103357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:103352600-103362400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:103352600-103403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:103352800-103357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:103353000-103353400	Weak transcription	HMEC	breast
39	chr1:103353400-103353600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:103353400-103353600	Enhancers	HMEC	breast
41	chr1:103353400-103355000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:103353600-103357200	Weak transcription	HMEC	breast
43	chr1:103353600-103357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:103354000-103354800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:103354800-103357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:103354800-103377400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:103355000-103378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:103355200-103357000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:103355400-103360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:103356400-103356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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