Variant report

Variant	nsv598086
Chromosome Location	chr5:49409485-49437600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1271 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74730405	chr5:49409485-49409486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199511266	chr5:49409509-49409510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556868806	chr5:49409511-49409512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371130444	chr5:49409517-49409518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200659615	chr5:49409521-49409522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201529189	chr5:49409553-49409554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374450023	chr5:49409558-49409559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374234353	chr5:49409569-49409570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76664423	chr5:49409573-49409574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370301797	chr5:49409579-49409580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138757836	chr5:49409604-49409605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149608666	chr5:49409646-49409647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144349117	chr5:49409670-49409671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200347317	chr5:49409693-49409694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375867045	chr5:49409706-49409707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368260334	chr5:49409711-49409712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs372786578	chr5:49409715-49409716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148367740	chr5:49409722-49409723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376622150	chr5:49409729-49409730	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141579763	chr5:49409738-49409739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201355191	chr5:49409744-49409745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs369064123	chr5:49409755-49409756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146287636	chr5:49409782-49409783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111400009	chr5:49409783-49409784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111673553	chr5:49409803-49409804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112226673	chr5:49409819-49409820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371675592	chr5:49409820-49409821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs28772607	chr5:49409834-49409835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542299712	chr5:49409847-49409848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371703997	chr5:49409857-49409858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113016858	chr5:49409858-49409859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs56995362	chr5:49409860-49409861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146085579	chr5:49409915-49409916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372583988	chr5:49409934-49409935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs139800553	chr5:49409935-49409936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs80154760	chr5:49409962-49409963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62390114	chr5:49409980-49409981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367551599	chr5:49409983-49409984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79962723	chr5:49409986-49409987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375182696	chr5:49410012-49410013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369381042	chr5:49410013-49410014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28854855	chr5:49410021-49410022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112808376	chr5:49410022-49410023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200412229	chr5:49410028-49410029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56917172	chr5:49410048-49410049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552777416	chr5:49410067-49410068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75569925	chr5:49410095-49410096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371046632	chr5:49410098-49410099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75840924	chr5:49410100-49410101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199755008	chr5:49410106-49410107	Weak transcription	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:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49406000-49409600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:49406000-49409600	Weak transcription	Fetal Heart	heart
3	chr5:49406000-49409600	Weak transcription	Left Ventricle	heart
4	chr5:49406000-49409600	Weak transcription	Right Ventricle	heart
5	chr5:49406000-49409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:49406000-49410600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:49406000-49413800	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:49406000-49413800	Weak transcription	Stomach Mucosa	stomach
9	chr5:49406000-49414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:49406000-49414200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:49406000-49414200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:49406000-49414200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:49406000-49414200	Weak transcription	Aorta	Aorta
14	chr5:49406000-49414200	Weak transcription	Brain Angular Gyrus	brain
15	chr5:49406000-49414200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:49406000-49414200	Weak transcription	Brain Substantia Nigra	brain
17	chr5:49406000-49414200	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:49406000-49414200	Weak transcription	Pancreas	Pancrea
19	chr5:49406000-49414200	Weak transcription	Psoas Muscle	Psoas
20	chr5:49406000-49414200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:49406000-49414200	Weak transcription	Thymus	Thymus
22	chr5:49406000-49414200	Weak transcription	Dnd41	blood
23	chr5:49406000-49414200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:49406000-49414200	Weak transcription	NH-A	brain
25	chr5:49406000-49414400	Weak transcription	HSMMtube	muscle
26	chr5:49406200-49414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:49407600-49413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:49409600-49409800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:49409600-49410000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr5:49409600-49410000	ZNF genes & repeats	Fetal Heart	heart
31	chr5:49409600-49410000	ZNF genes & repeats	Right Ventricle	heart
32	chr5:49409600-49410000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr5:49410000-49410400	Weak transcription	Left Ventricle	heart
34	chr5:49410000-49413600	Weak transcription	Right Ventricle	heart
35	chr5:49410000-49413800	Weak transcription	Fetal Heart	heart
36	chr5:49410000-49414200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:49410600-49410800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
38	chr5:49410600-49413800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:49412600-49414200	Weak transcription	Left Ventricle	heart
40	chr5:49413600-49414200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:49413600-49414200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:49413600-49414200	Weak transcription	Brain Anterior Caudate	brain
43	chr5:49413600-49414200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:49413600-49414200	Weak transcription	Fetal Lung	lung
45	chr5:49413800-49414200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:49413800-49414200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:49413800-49414600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:49413800-49414600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:49413800-49414600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:49413800-49414600	ZNF genes & repeats	Brain Hippocampus Middle	brain

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