Variant report

Variant	nsv4961
Chromosome Location	chr5:112945908-112991152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112947470..112948121-chr8:139779637..139780501,2	MCF-7	breast:
2	chr5:112961563..112964546-chr5:112979790..112981581,2	K562	blood:
3	chr5:112947373..112947957-chr5:112999447..113000233,2	MCF-7	breast:
4	chr5:112947841..112948477-chr5:113785646..113786287,2	MCF-7	breast:
5	chr5:112961563..112964546-chr5:112979790..112981581,2	K562	blood:

Extended variants
information (count: 712 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2972690	chr5:112945945-112945946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544900760	chr5:112945963-112945964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2972689	chr5:112945966-112945967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111777629	chr5:112945967-112945968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2914200	chr5:112945992-112945993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs560587764	chr5:112945999-112946000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115489483	chr5:112946060-112946061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549495356	chr5:112946077-112946078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187396930	chr5:112946084-112946085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141634818	chr5:112946105-112946106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537676647	chr5:112946131-112946132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10040516	chr5:112946201-112946202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs150507384	chr5:112946208-112946209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527538126	chr5:112946210-112946211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546679459	chr5:112946216-112946217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538204121	chr5:112946217-112946218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139541445	chr5:112946224-112946225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572050330	chr5:112946255-112946256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192298428	chr5:112946342-112946343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554679200	chr5:112946363-112946364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574258851	chr5:112946403-112946404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544836259	chr5:112946412-112946413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563136104	chr5:112946490-112946491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144283717	chr5:112946491-112946492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184678480	chr5:112946517-112946518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545730550	chr5:112946594-112946595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568410702	chr5:112946612-112946613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34074858	chr5:112946659-112946660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529444556	chr5:112946666-112946667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560277284	chr5:112946674-112946675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564388523	chr5:112946717-112946718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112374781	chr5:112946733-112946734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10065616	chr5:112946746-112946747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs147414584	chr5:112946782-112946783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139684009	chr5:112946796-112946797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540030135	chr5:112946801-112946802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2972688	chr5:112946840-112946841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145207855	chr5:112946849-112946850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10065676	chr5:112946857-112946858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147642703	chr5:112946878-112946879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547706325	chr5:112946918-112946919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34180983	chr5:112946924-112946925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536269305	chr5:112946925-112946926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554334825	chr5:112946958-112946959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189202980	chr5:112946982-112946983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10052077	chr5:112947010-112947011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs558595297	chr5:112947012-112947013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573284934	chr5:112947031-112947032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17333442	chr5:112947050-112947051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs578234924	chr5:112947136-112947137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112944200-112949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112944400-112950000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112944400-112950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112947600-112948200	Enhancers	Brain Angular Gyrus	brain
5	chr5:112947800-112948200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:112947800-112948200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:112947800-112948600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:112948000-112948200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:112948000-112948200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:112948000-112948200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:112948000-112948200	Bivalent Enhancer	Primary T cells from cord blood	blood
12	chr5:112948000-112948200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr5:112948000-112948200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:112948000-112948200	Enhancers	Ovary	ovary
15	chr5:112948000-112948400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:112948000-112948400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:112948000-112948600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:112948000-112949000	Enhancers	Fetal Heart	heart
19	chr5:112948000-112949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:112948200-112948400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:112948200-112948400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:112948200-112948400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:112948200-112951000	Weak transcription	Ovary	ovary
24	chr5:112948200-112952800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:112948400-112949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:112948400-112949400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:112948400-112949600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:112948400-112949600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:112948400-112949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:112948600-112948800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:112948600-112949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:112948600-112949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:112948800-112952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:112949000-112950200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:112949200-112950400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:112949400-112950000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:112949400-112950400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:112949600-112950200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:112949600-112950400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:112949600-112950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:112949800-112950200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:112949800-112950400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:112950000-112950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:112950000-112950600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr5:112950000-112951600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:112950200-112950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:112950800-112951800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:112950800-112952000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:112951000-112952000	Enhancers	Ovary	ovary
50	chr5:112951200-112951800	Enhancers	Placenta	Placenta

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