Variant report

Variant	nsv1027980
Chromosome Location	chr5:103506757-103534114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103143979..103144697-chr5:103514544..103515454,4	K562	blood:
2	chr15:100541763..100542576-chr5:103512576..103513415,2	MCF-7	breast:
3	chr5:103504487..103508742-chr5:103509430..103512265,3	K562	blood:
4	chr5:103519669..103522372-chr5:103523463..103525716,2	K562	blood:
5	chr5:103504487..103508742-chr5:103509430..103512265,3	K562	blood:
6	chr5:103519669..103522372-chr5:103523463..103525716,2	K562	blood:
7	chr5:103500874..103502954-chr5:103505978..103507826,2	K562	blood:
8	chr5:103488217..103490726-chr5:103523272..103524966,2	K562	blood:
9	chr5:103530400..103532599-chr5:103544330..103547134,2	K562	blood:

No data

Extended variants
information (count: 572 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4423970	chr5:103506757-103506758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530759933	chr5:103506768-103506769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572135124	chr5:103506808-103506809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554183677	chr5:103506819-103506820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551270097	chr5:103506902-103506903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148024041	chr5:103506962-103506963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572731451	chr5:103507031-103507032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578005846	chr5:103507054-103507055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543737705	chr5:103507066-103507067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563429663	chr5:103507081-103507082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529111843	chr5:103507096-103507097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140535424	chr5:103507114-103507115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548888012	chr5:103507120-103507121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554877296	chr5:103507165-103507166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183962474	chr5:103507189-103507190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528521891	chr5:103507236-103507237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570913137	chr5:103507283-103507284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551373199	chr5:103507336-103507337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548849544	chr5:103507393-103507394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571347686	chr5:103507402-103507403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141795554	chr5:103507403-103507404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561188298	chr5:103507420-103507421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551286508	chr5:103507461-103507462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76526540	chr5:103507462-103507463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34429340	chr5:103507504-103507505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10515360	chr5:103507531-103507532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs36006312	chr5:103507555-103507556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565783263	chr5:103507557-103507558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568361129	chr5:103507602-103507603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150581548	chr5:103507620-103507621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557873681	chr5:103507628-103507629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562215664	chr5:103507637-103507638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35269607	chr5:103507646-103507647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376095092	chr5:103507721-103507722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188908279	chr5:103507800-103507801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61482025	chr5:103507807-103507808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141515405	chr5:103507808-103507809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542811971	chr5:103507815-103507816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146227190	chr5:103507817-103507818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528264868	chr5:103507836-103507837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61598592	chr5:103507870-103507871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116258034	chr5:103507887-103507888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574445755	chr5:103507978-103507979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78503525	chr5:103508026-103508027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550667863	chr5:103508043-103508044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554179756	chr5:103508062-103508063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4703295	chr5:103508076-103508077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201598478	chr5:103508088-103508089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117423038	chr5:103508091-103508092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368586230	chr5:103508105-103508106	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103506400-103507000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:103507000-103507400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:103507400-103508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:103507600-103509000	Enhancers	Hela-S3	cervix
5	chr5:103509000-103510200	Weak transcription	Hela-S3	cervix
6	chr5:103513600-103514600	Weak transcription	Hela-S3	cervix
7	chr5:103514600-103515200	Enhancers	Hela-S3	cervix
8	chr5:103514600-103515600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:103514800-103515000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:103514800-103516200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr5:103515600-103516600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr5:103520000-103520800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:103521200-103525000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:103521400-103521600	Active TSS	Liver	Liver
15	chr5:103521600-103521800	Enhancers	Liver	Liver
16	chr5:103521800-103522000	ZNF genes & repeats	Liver	Liver
17	chr5:103521800-103522000	Enhancers	NHEK	skin
18	chr5:103522000-103522400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:103522000-103522400	Flanking Active TSS	NHEK	skin
20	chr5:103522000-103525000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:103522200-103522800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:103522400-103524600	Weak transcription	NHEK	skin
23	chr5:103524000-103525400	Weak transcription	K562	blood
24	chr5:103524400-103524800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:103524400-103524800	Enhancers	Psoas Muscle	Psoas
26	chr5:103524400-103525200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:103524400-103526000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:103524400-103526200	Enhancers	NH-A	brain
29	chr5:103524400-103526200	Enhancers	Osteobl	bone
30	chr5:103524400-103526400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:103524400-103526600	Enhancers	Hela-S3	cervix
32	chr5:103524600-103525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:103524600-103526200	Enhancers	HMEC	breast
34	chr5:103524600-103526200	Enhancers	NHEK	skin
35	chr5:103524600-103526400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:103524600-103526400	Enhancers	HUVEC	blood vessel
37	chr5:103525400-103525800	Enhancers	K562	blood
38	chr5:103530800-103531400	Enhancers	HUES64 Cell Line	embryonic stem cell

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