Variant report

Variant	nsv964769
Chromosome Location	chr5:49994526-49997944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
2	chr5:49963253..49964833-chr5:49994223..49996003,2	MCF-7	breast:
3	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114291998	chr5:49994535-49994536	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184478160	chr5:49994553-49994554	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115398271	chr5:49994613-49994614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566033150	chr5:49994629-49994630	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529039876	chr5:49994637-49994638	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs16884480	chr5:49994670-49994671	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558111931	chr5:49994706-49994707	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200419720	chr5:49994718-49994719	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568434723	chr5:49994719-49994720	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571799265	chr5:49994721-49994722	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536776323	chr5:49994785-49994786	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190213985	chr5:49994886-49994887	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369788266	chr5:49994918-49994919	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111319317	chr5:49994939-49994940	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112539143	chr5:49994979-49994980	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115849866	chr5:49994989-49994990	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552958515	chr5:49995008-49995009	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573222351	chr5:49995011-49995012	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184426125	chr5:49995044-49995045	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116229854	chr5:49995060-49995061	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115233114	chr5:49995082-49995083	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112044113	chr5:49995092-49995093	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371426475	chr5:49995148-49995149	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189177046	chr5:49995155-49995156	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573353820	chr5:49995162-49995163	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73099001	chr5:49995163-49995164	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373738085	chr5:49995186-49995187	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529299501	chr5:49995242-49995243	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139880850	chr5:49995262-49995263	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181207415	chr5:49995272-49995273	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528820826	chr5:49995280-49995281	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs367645322	chr5:49995297-49995298	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143254179	chr5:49995305-49995306	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73099002	chr5:49995360-49995361	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537669554	chr5:49995467-49995468	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550855131	chr5:49995486-49995487	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567373561	chr5:49995499-49995500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536350176	chr5:49995646-49995647	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553038241	chr5:49995651-49995652	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146671214	chr5:49995711-49995712	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140221076	chr5:49995726-49995727	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149958861	chr5:49995786-49995787	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575405617	chr5:49995798-49995799	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73101005	chr5:49995806-49995807	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560742810	chr5:49995817-49995818	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565289268	chr5:49995847-49995848	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531868632	chr5:49995850-49995851	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573834519	chr5:49995865-49995866	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs73101007	chr5:49995877-49995878	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559352407	chr5:49995908-49995909	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
2	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
6	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:49983000-49998800	Weak transcription	Lung	lung
8	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:49987200-49994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:49987400-49994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:49987400-49995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:49987600-49995000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:49987600-50001600	Weak transcription	Dnd41	blood
15	chr5:49987800-49995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:49987800-49998200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:49987800-49998800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:49988000-49995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:49989000-49997600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:49989200-49998000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:49989400-49995000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:49990800-49998600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:49990800-49998600	Weak transcription	Spleen	Spleen
24	chr5:49991200-49998600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:49991200-50007200	Weak transcription	Pancreas	Pancrea
26	chr5:49991400-49994800	Weak transcription	Primary T cells from cord blood	blood
27	chr5:49991400-49998200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:49991400-50006400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:49992400-49995400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:49992800-49994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:49993000-49996600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:49993200-49995400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:49993600-49999200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:49993800-49997200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:49993800-50000800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:49993800-50006800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr5:49994000-49995000	Weak transcription	GM12878-XiMat	blood
38	chr5:49994000-49998200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:49994200-49995600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:49994200-49995600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:49994400-49994800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:49994400-49996800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:49994800-49995200	Enhancers	Primary T cells from cord blood	blood
44	chr5:49994800-49995600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:49994800-49995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:49994800-49995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:49994800-49996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:49995000-49995600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:49995000-49995600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr5:49995000-49995800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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