Variant report

Variant	nsv598100
Chromosome Location	chr5:49486237-49525181
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	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:
2	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:

Extended variants
information (count: 4033 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4033 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7293462	chr5:49486237-49486238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144935568	chr5:49486239-49486240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114963100	chr5:49486244-49486245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115965226	chr5:49486245-49486246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529326906	chr5:49486246-49486247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141732766	chr5:49486248-49486249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140188650	chr5:49486253-49486254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143742340	chr5:49486258-49486259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577203891	chr5:49486273-49486274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201914872	chr5:49486277-49486278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566032172	chr5:49486281-49486282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535144233	chr5:49486293-49486294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558248000	chr5:49486306-49486307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571902112	chr5:49486307-49486308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537227539	chr5:49486308-49486309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557683049	chr5:49486318-49486319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372676104	chr5:49486323-49486324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537302810	chr5:49486324-49486325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189285443	chr5:49486329-49486330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552556291	chr5:49486332-49486333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544562461	chr5:49486335-49486336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376223282	chr5:49486350-49486351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111372116	chr5:49486362-49486363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544721060	chr5:49486367-49486368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201931873	chr5:49486368-49486369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199997638	chr5:49486371-49486372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564624688	chr5:49486379-49486380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111535333	chr5:49486385-49486386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7293347	chr5:49486392-49486393	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs201106189	chr5:49486403-49486404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185771553	chr5:49486404-49486405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202168264	chr5:49486410-49486411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112598761	chr5:49486412-49486413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561095106	chr5:49486423-49486424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529945512	chr5:49486445-49486446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7293348	chr5:49486452-49486453	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs201214653	chr5:49486453-49486454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559799575	chr5:49486454-49486455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183491640	chr5:49486457-49486458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374298949	chr5:49486458-49486459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571648070	chr5:49486462-49486463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368835295	chr5:49486463-49486464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3950413	chr5:49486464-49486465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372425844	chr5:49486466-49486467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375809619	chr5:49486470-49486471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369073406	chr5:49486476-49486477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550903920	chr5:49486494-49486495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567803769	chr5:49486497-49486498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36051860	chr5:49486511-49486512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200564839	chr5:49486513-49486514	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:49485000-49488400	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:49486600-49491000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr5:49487400-49497600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr5:49488400-49488600	ZNF genes & repeats	Colon Smooth Muscle	Colon
8	chr5:49488400-49488800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
9	chr5:49488400-49488800	Active TSS	Aorta	Aorta
10	chr5:49488400-49488800	ZNF genes & repeats	Brain Substantia Nigra	brain
11	chr5:49488400-49489000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr5:49490200-49514600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr5:49492200-49492600	ZNF genes & repeats	HUVEC	blood vessel
14	chr5:49492400-49493000	Weak transcription	NH-A	brain
15	chr5:49494200-49494600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:49495800-49497200	Weak transcription	NH-A	brain
17	chr5:49495800-49517800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:49496000-49496200	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr5:49497200-49497600	ZNF genes & repeats	NH-A	brain
20	chr5:49497600-49502000	Weak transcription	NH-A	brain
21	chr5:49501600-49502400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr5:49501800-49502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr5:49501800-49502800	Enhancers	Dnd41	blood
24	chr5:49502000-49502200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr5:49502000-49502200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:49502000-49502200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr5:49502000-49502200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:49502000-49502200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
29	chr5:49502000-49502200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:49502000-49502200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:49502000-49502200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:49502000-49502200	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr5:49502000-49502200	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr5:49502000-49502200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr5:49502000-49502200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr5:49502000-49502200	ZNF genes & repeats	HUVEC	blood vessel
37	chr5:49502000-49502200	ZNF genes & repeats	NH-A	brain
38	chr5:49502000-49502200	Active TSS	NHEK	skin
39	chr5:49502000-49502400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:49502000-49502400	ZNF genes & repeats	Liver	Liver
41	chr5:49502400-49502600	Weak transcription	NH-A	brain
42	chr5:49505600-49514600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr5:49507000-49511000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr5:49507200-49508200	ZNF genes & repeats	Liver	Liver
45	chr5:49510000-49513600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:49510800-49511600	Enhancers	Dnd41	blood
47	chr5:49511600-49512000	ZNF genes & repeats	HUVEC	blood vessel
48	chr5:49512400-49516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr5:49513200-49514200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:49513200-49514200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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