Variant report

Variant	nsv997278
Chromosome Location	chr1:80220617-80479841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
2	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
3	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
4	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
5	chr1:80330992..80332492-chr17:59388398..59390197,2	MCF-7	breast:
6	chr1:80380861..80381772-chr1:80785065..80785571,2	K562	blood:
7	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
8	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
9	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
10	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:

No data

Extended variants
information (count: 3278 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3278 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563652862	chr1:80226011-80226012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138283048	chr1:80226064-80226065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548972667	chr1:80226068-80226069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34979779	chr1:80226133-80226134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559044746	chr1:80226164-80226165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567273569	chr1:80226183-80226184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572494057	chr1:80226189-80226190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2037620	chr1:80226201-80226202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561105892	chr1:80226206-80226207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376700497	chr1:80226213-80226214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575124334	chr1:80226224-80226225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374948701	chr1:80226262-80226263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182846107	chr1:80226282-80226283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141909700	chr1:80226298-80226299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543753374	chr1:80226301-80226302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371133935	chr1:80226347-80226348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187190733	chr1:80226403-80226404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35490848	chr1:80226404-80226405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12759447	chr1:80226405-80226406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568875850	chr1:80226448-80226449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536313193	chr1:80226471-80226472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201889456	chr1:80226553-80226554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34176898	chr1:80226643-80226644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34407527	chr1:80226673-80226674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564601744	chr1:80226678-80226679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191677707	chr1:80226709-80226710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150766007	chr1:80226712-80226713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34813924	chr1:80226798-80226799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7555387	chr1:80242036-80242037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528334151	chr1:80242096-80242097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540432320	chr1:80242108-80242109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529041407	chr1:80242157-80242158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532338383	chr1:80242161-80242162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7555511	chr1:80242227-80242228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568840842	chr1:80242230-80242231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376221786	chr1:80242250-80242251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185394657	chr1:80242255-80242256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547831425	chr1:80242284-80242285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567950189	chr1:80242290-80242291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs66826514	chr1:80242305-80242306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370006556	chr1:80242307-80242308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398102926	chr1:80242309-80242310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58813042	chr1:80242324-80242325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557360631	chr1:80242343-80242344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546878345	chr1:80242362-80242363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146422137	chr1:80242369-80242370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189110519	chr1:80242395-80242396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538824642	chr1:80242419-80242420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138072488	chr1:80242425-80242426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192208394	chr1:80242456-80242457	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80226000-80226400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:80226000-80226600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:80226200-80226800	Enhancers	Adipose Nuclei	Adipose
4	chr1:80242000-80243800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:80243000-80243400	Enhancers	Fetal Heart	heart
6	chr1:80243000-80243800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:80243000-80244600	Enhancers	GM12878-XiMat	blood
8	chr1:80243200-80244000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:80247200-80250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:80249200-80250800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:80249400-80251400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:80250600-80250800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:80250800-80251400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:80251400-80251600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:80251600-80257600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:80256800-80257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:80257000-80257200	Enhancers	Pancreas	Pancrea
18	chr1:80257000-80258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:80257200-80257800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:80257200-80258000	Weak transcription	Pancreas	Pancrea
21	chr1:80257200-80258400	Enhancers	Aorta	Aorta
22	chr1:80257600-80258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:80257600-80258600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:80258000-80258200	Enhancers	Pancreas	Pancrea
25	chr1:80258200-80267400	Weak transcription	Pancreas	Pancrea
26	chr1:80262600-80262800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:80262800-80264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:80263000-80264000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:80269200-80269600	Enhancers	Fetal Heart	heart
30	chr1:80269200-80269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:80271200-80272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:80271600-80271800	Enhancers	Pancreas	Pancrea
33	chr1:80271600-80272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:80272000-80272600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:80275800-80276000	Enhancers	NHLF	lung
36	chr1:80275800-80278000	Enhancers	HUVEC	blood vessel
37	chr1:80276000-80278600	Weak transcription	NHLF	lung
38	chr1:80276600-80277800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:80276600-80278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:80276800-80277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:80276800-80277400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:80276800-80278400	Enhancers	NHEK	skin
43	chr1:80276800-80279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:80277200-80277600	Enhancers	HSMMtube	muscle
45	chr1:80277200-80277600	Enhancers	NH-A	brain
46	chr1:80277200-80277800	Enhancers	HMEC	breast
47	chr1:80277600-80278400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:80278400-80280600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:80278600-80279000	Enhancers	NHLF	lung
50	chr1:80280600-80281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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