Variant report

Variant	nsv546157
Chromosome Location	chr1:45640553-45645097
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	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
2	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548539994	chr1:45640561-45640562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370034260	chr1:45640570-45640571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544379101	chr1:45640593-45640594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556621750	chr1:45640621-45640622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111718914	chr1:45640639-45640640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368380600	chr1:45640641-45640642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574506084	chr1:45640653-45640654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148297429	chr1:45640658-45640659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563288612	chr1:45640672-45640673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576866998	chr1:45640681-45640682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141431519	chr1:45640692-45640693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187876487	chr1:45640726-45640727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527962117	chr1:45640734-45640735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547996779	chr1:45640764-45640765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192774564	chr1:45640795-45640796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150847724	chr1:45640805-45640806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549820894	chr1:45640816-45640817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74824496	chr1:45640817-45640818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139634094	chr1:45640822-45640823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552141285	chr1:45640834-45640835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566000923	chr1:45640839-45640840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184293266	chr1:45641016-45641017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142930223	chr1:45641032-45641033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs36102215	chr1:45641041-45641042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568130442	chr1:45641054-45641055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537152941	chr1:45641060-45641061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557048857	chr1:45641096-45641097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561180332	chr1:45641118-45641119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577011226	chr1:45641124-45641125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112155201	chr1:45641137-45641138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530248184	chr1:45641160-45641161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552670160	chr1:45641161-45641162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572720836	chr1:45641222-45641223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541327976	chr1:45641225-45641226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561537577	chr1:45641253-45641254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530183523	chr1:45641280-45641281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543604001	chr1:45641296-45641297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563480965	chr1:45641306-45641307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547045945	chr1:45641312-45641313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552571759	chr1:45641325-45641326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146124317	chr1:45641390-45641391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566857492	chr1:45641399-45641400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548145470	chr1:45641403-45641404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140161439	chr1:45641442-45641443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190807646	chr1:45641451-45641452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2997465	chr1:45641454-45641455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570588949	chr1:45641469-45641470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192517428	chr1:45641555-45641556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540212418	chr1:45641560-45641561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552948793	chr1:45641572-45641573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
3	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:45639000-45642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:45639000-45644800	Weak transcription	A549	lung
6	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:45640400-45640600	Enhancers	HepG2	liver
8	chr1:45640600-45645000	Weak transcription	HepG2	liver
9	chr1:45642400-45642800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:45642400-45645000	Enhancers	Hela-S3	cervix
11	chr1:45642600-45643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:45643000-45643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:45643000-45644200	Enhancers	Small Intestine	intestine
14	chr1:45643200-45644000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:45643400-45644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:45643600-45644200	Enhancers	Fetal Intestine Large	intestine
17	chr1:45643800-45645800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:45644800-45645800	ZNF genes & repeats	A549	lung
19	chr1:45645000-45645600	Flanking Active TSS	Hela-S3	cervix
20	chr1:45645000-45645600	ZNF genes & repeats	HepG2	liver
21	chr1:45645000-45646000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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