Variant report

Variant	esv3322475
Chromosome Location	chr5:49461337-49461516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373028601	chr5:49461340-49461341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369871121	chr5:49461341-49461342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549483818	chr5:49461345-49461346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs202128910	chr5:49461349-49461350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61014472	chr5:49461351-49461352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369776381	chr5:49461352-49461353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373969629	chr5:49461353-49461354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376084194	chr5:49461354-49461355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192598098	chr5:49461357-49461358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182768268	chr5:49461359-49461360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201032207	chr5:49461362-49461363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs202000565	chr5:49461363-49461364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535164199	chr5:49461386-49461387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549203044	chr5:49461392-49461393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549854278	chr5:49461410-49461411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534946512	chr5:49461413-49461414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558096972	chr5:49461424-49461425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200467597	chr5:49461463-49461464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13162159	chr5:49461466-49461467	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564731650	chr5:49461477-49461478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49458000-49464400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:49458200-49464400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49460200-49464400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr5:49460400-49464200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:49461200-49464400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr5:49461400-49462000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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