Variant report

Variant	nsv598089
Chromosome Location	chr5:49441601-49547088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
2	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:
3	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:

Extended variants
information (count: 10931 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:10931 , 50 per page) page: 1 2 3 4 5 6 7 ... 219

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4865721	chr5:49441601-49441602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112127790	chr5:49441605-49441606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578172444	chr5:49441611-49441612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544524850	chr5:49441613-49441614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555209526	chr5:49441615-49441616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4865722	chr5:49441621-49441622	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs4865723	chr5:49441623-49441624	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs371314231	chr5:49441624-49441625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12658565	chr5:49441625-49441626	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151041316	chr5:49441628-49441629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546054651	chr5:49441631-49441632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2199095	chr5:49441632-49441633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182665620	chr5:49441636-49441637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185989205	chr5:49441638-49441639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149860095	chr5:49441640-49441641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113471628	chr5:49441641-49441642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147928538	chr5:49441648-49441649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566656856	chr5:49441650-49441651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115601533	chr5:49441655-49441656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558598115	chr5:49441661-49441662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569122817	chr5:49441662-49441663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554965889	chr5:49441665-49441666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575076169	chr5:49441672-49441673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190713378	chr5:49441673-49441674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141791139	chr5:49441678-49441679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577044430	chr5:49441680-49441681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545938279	chr5:49441686-49441687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562536966	chr5:49441692-49441693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546964196	chr5:49441699-49441700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113000313	chr5:49441700-49441701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183448355	chr5:49441703-49441704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187339152	chr5:49441704-49441705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147090066	chr5:49441706-49441707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546703806	chr5:49441711-49441712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192237582	chr5:49441713-49441714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532337750	chr5:49441714-49441715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10461429	chr5:49441715-49441716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79218707	chr5:49441716-49441717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369960162	chr5:49441718-49441719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115093550	chr5:49441732-49441733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117168573	chr5:49441733-49441734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138696312	chr5:49441737-49441738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372559311	chr5:49441740-49441741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148855847	chr5:49441743-49441744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143427460	chr5:49441744-49441745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576932675	chr5:49441746-49441747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147990244	chr5:49441751-49441752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116701418	chr5:49441752-49441753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2199094	chr5:49441758-49441759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576194819	chr5:49441769-49441770	ZNF genes & repeats 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:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49440000-49442200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:49441400-49442800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:49441400-49442800	Weak transcription	HSMMtube	muscle
4	chr5:49441400-49447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:49441400-49447800	Weak transcription	GM12878-XiMat	blood
6	chr5:49441400-49448800	Weak transcription	Fetal Heart	heart
7	chr5:49441400-49450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:49441400-49450400	Weak transcription	Hela-S3	cervix
9	chr5:49441400-49450400	Weak transcription	NH-A	brain
10	chr5:49441400-49450400	Weak transcription	NHEK	skin
11	chr5:49441400-49450400	Weak transcription	Osteobl	bone
12	chr5:49447800-49448000	ZNF genes & repeats	GM12878-XiMat	blood
13	chr5:49447800-49448200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr5:49447800-49451200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:49447800-49451200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr5:49448400-49451000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:49448600-49449000	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:49448600-49449000	Weak transcription	HSMMtube	muscle
19	chr5:49448600-49450800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:49448600-49450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr5:49448600-49451000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:49448800-49449000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr5:49448800-49449200	ZNF genes & repeats	Liver	Liver
24	chr5:49448800-49449200	ZNF genes & repeats	Fetal Heart	heart
25	chr5:49448800-49449200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr5:49448800-49449200	Active TSS	Psoas Muscle	Psoas
27	chr5:49448800-49449400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:49449000-49449200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr5:49449200-49450000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:49449200-49450000	Weak transcription	HSMMtube	muscle
31	chr5:49449200-49450400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:49449200-49450400	Weak transcription	Liver	Liver
33	chr5:49449200-49450400	Weak transcription	Fetal Heart	heart
34	chr5:49449200-49450400	Weak transcription	Fetal Kidney	kidney
35	chr5:49449200-49450400	Weak transcription	Psoas Muscle	Psoas
36	chr5:49449200-49450400	Weak transcription	GM12878-XiMat	blood
37	chr5:49450200-49450400	Enhancers	Thymus	Thymus
38	chr5:49450200-49450800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr5:49450200-49451000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:49450400-49450600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:49450400-49450600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:49450400-49450600	Bivalent/Poised TSS	Pancreas	Pancrea
45	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr5:49450400-49450600	Bivalent Enhancer	HSMM	muscle
47	chr5:49450400-49450800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:49450400-49450800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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