Variant report

Variant	nsv1013476
Chromosome Location	chr1:67044630-67065911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67064848..67066944-chr1:67071232..67073081,2	K562	blood:
2	chr1:67047745..67048246-chr6:116563756..116564256,2	NB4	blood:
3	chr1:67048310..67050858-chr1:67148438..67150245,2	K562	blood:

Extended variants
information (count: 827 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10889633	chr1:67044630-67044631	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6696973	chr1:67044664-67044665	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs564466118	chr1:67044668-67044669	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6697088	chr1:67044724-67044725	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs540496353	chr1:67044749-67044750	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560757140	chr1:67044784-67044785	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560852671	chr1:67044787-67044788	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6697365	chr1:67044834-67044835	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs549273518	chr1:67044917-67044918	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199777057	chr1:67044925-67044926	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112254699	chr1:67044940-67044941	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190691810	chr1:67044943-67044944	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114076932	chr1:67044944-67044945	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12043724	chr1:67044945-67044946	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369550541	chr1:67045107-67045108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576767017	chr1:67045127-67045128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539541992	chr1:67045165-67045166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112496816	chr1:67045168-67045169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1160675	chr1:67045237-67045238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566669866	chr1:67045238-67045239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533326573	chr1:67045285-67045286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535703566	chr1:67045300-67045301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555748588	chr1:67045321-67045322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376908684	chr1:67045322-67045323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72676179	chr1:67045331-67045332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76660557	chr1:67045363-67045364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578011473	chr1:67045392-67045393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183313164	chr1:67045393-67045394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551969505	chr1:67045396-67045397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530053913	chr1:67045407-67045408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560438430	chr1:67045460-67045461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144406573	chr1:67045475-67045476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542909566	chr1:67045491-67045492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562883916	chr1:67045497-67045498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188409106	chr1:67045500-67045501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192684163	chr1:67045508-67045509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113778633	chr1:67045517-67045518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564125954	chr1:67045533-67045534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556708663	chr1:67045563-67045564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58274265	chr1:67045629-67045630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546676006	chr1:67045646-67045647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117493080	chr1:67045682-67045683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550007700	chr1:67045710-67045711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148398877	chr1:67045731-67045732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547701299	chr1:67045780-67045781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183052717	chr1:67045786-67045787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58171402	chr1:67045806-67045807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75546050	chr1:67045912-67045913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557834230	chr1:67045919-67045920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34151828	chr1:67045924-67045925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67040800-67044800	Enhancers	NHDF-Ad	bronchial
2	chr1:67041400-67045600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:67041600-67062400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:67042000-67045800	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:67042000-67046200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:67042000-67046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:67042200-67045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:67042600-67044800	Enhancers	Osteobl	bone
9	chr1:67043000-67046600	Weak transcription	Small Intestine	intestine
10	chr1:67043200-67047600	Weak transcription	Fetal Lung	lung
11	chr1:67043200-67052000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:67043200-67056800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:67043200-67064400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:67043400-67045000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:67043400-67045000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:67043400-67056200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:67043600-67050600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:67043600-67066600	Weak transcription	Fetal Brain Male	brain
19	chr1:67044000-67057200	Weak transcription	Aorta	Aorta
20	chr1:67044200-67064000	Weak transcription	NH-A	brain
21	chr1:67044400-67045000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:67044400-67045000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:67044400-67045800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:67044800-67050600	Weak transcription	NHDF-Ad	bronchial
25	chr1:67044800-67064000	Weak transcription	Osteobl	bone
26	chr1:67045000-67047600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:67045000-67050400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:67045000-67050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:67045000-67050600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:67045600-67056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:67046000-67049400	Weak transcription	Psoas Muscle	Psoas
32	chr1:67046400-67060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:67047600-67048200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:67047600-67048600	Enhancers	Fetal Lung	lung
35	chr1:67048200-67049000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:67049000-67049600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:67049400-67049600	Enhancers	Psoas Muscle	Psoas
38	chr1:67049600-67051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:67049600-67062600	Weak transcription	Psoas Muscle	Psoas
40	chr1:67050000-67050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:67050200-67051200	Enhancers	HepG2	liver
42	chr1:67050200-67052200	Enhancers	Fetal Heart	heart
43	chr1:67050400-67051000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:67050400-67051200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:67050400-67051200	Enhancers	Brain Substantia Nigra	brain
46	chr1:67050600-67050800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:67050600-67051000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:67050600-67051000	Enhancers	Brain Hippocampus Middle	brain
49	chr1:67050600-67051200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:67050600-67051200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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