Variant report

Variant	nsv882653
Chromosome Location	chr5:105272932-105527995
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
2	chr5:105524602..105525494-chr5:105605112..105605614,2	MCF-7	breast:
3	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
4	chr5:105516958..105519522-chr5:105522528..105525004,2	MCF-7	breast:
5	chr5:105277877..105279984-chr5:105291624..105293914,2	K562	blood:
6	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
7	chr5:105441681..105443385-chr5:105444748..105446798,2	MCF-7	breast:
8	chr5:105508454..105509115-chr5:105577016..105577617,2	MCF-7	breast:
9	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
10	chr5:105503558..105505847-chr5:105508782..105510763,2	K562	blood:
11	chr5:105350170..105353014-chr5:105353588..105356081,2	MCF-7	breast:
12	chr5:105457288..105458138-chr5:105577043..105577605,2	MCF-7	breast:
13	chr5:105234064..105236174-chr5:105275711..105277447,2	MCF-7	breast:
14	chr5:105277877..105279984-chr5:105291624..105293914,2	K562	blood:
15	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
16	chr5:105355969..105357531-chr5:105359984..105362955,2	MCF-7	breast:
17	chr5:105428632..105431100-chr5:105575267..105577063,2	MCF-7	breast:
18	chr5:105429270..105430863-chr5:105571173..105574118,2	MCF-7	breast:
19	chr5:105358616..105362341-chr5:105362697..105365836,3	K562	blood:
20	chr5:105390923..105392932-chr5:105396217..105399013,2	MCF-7	breast:
21	chr5:105525968..105526876-chr5:105576875..105577837,2	MCF-7	breast:
22	chr5:105503558..105505847-chr5:105508782..105510763,2	K562	blood:
23	chr5:105516958..105519522-chr5:105522528..105525004,2	MCF-7	breast:

No data

Extended variants
information (count: 3687 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3687 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143817878	chr5:105274425-105274426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144247477	chr5:105274456-105274457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148722389	chr5:105274518-105274519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556107744	chr5:105274529-105274530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576690134	chr5:105274555-105274556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200908767	chr5:105274557-105274558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190289861	chr5:105274566-105274567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556059293	chr5:105274567-105274568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537138133	chr5:105274616-105274617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541591807	chr5:105274634-105274635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs559000915	chr5:105274643-105274644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577377609	chr5:105274672-105274673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541559151	chr5:105274673-105274674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559913674	chr5:105274695-105274696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183389214	chr5:105274829-105274830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188791141	chr5:105274832-105274833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543488257	chr5:105274863-105274864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563679513	chr5:105274867-105274868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141767690	chr5:105274933-105274934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1404169	chr5:105274944-105274945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561611516	chr5:105274953-105274954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527488627	chr5:105274955-105274956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547188119	chr5:105274958-105274959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556923026	chr5:105274992-105274993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193056797	chr5:105274995-105274996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542846295	chr5:105275025-105275026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150591380	chr5:105275077-105275078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370888071	chr5:105275114-105275115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111647632	chr5:105275119-105275120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556098309	chr5:105275159-105275160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185565424	chr5:105275160-105275161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74293758	chr5:105275173-105275174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561019240	chr5:105275340-105275341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375681601	chr5:105275363-105275364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72434191	chr5:105275372-105275373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558313186	chr5:105275384-105275385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578056050	chr5:105275388-105275389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112409648	chr5:105275396-105275397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201033517	chr5:105275397-105275398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113211189	chr5:105275400-105275401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371373119	chr5:105275401-105275402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74272388	chr5:105275404-105275405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12515507	chr5:105275408-105275409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543919141	chr5:105275420-105275421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563598521	chr5:105275422-105275423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573988881	chr5:105275430-105275431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112530939	chr5:105275434-105275435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374090411	chr5:105275436-105275437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56225182	chr5:105275440-105275441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141749882	chr5:105275444-105275445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105274400-105274800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr5:105274800-105276000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:105275600-105275800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:105275800-105276000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:105275800-105276800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:105275800-105277400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:105276000-105276200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:105276000-105277000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:105276000-105277400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:105276200-105276400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:105276400-105276800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:105278800-105279200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:105278800-105280000	Enhancers	Fetal Muscle Leg	muscle
14	chr5:105279000-105279400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr5:105279000-105279800	Enhancers	Adipose Nuclei	Adipose
16	chr5:105279000-105279800	Enhancers	Fetal Muscle Trunk	muscle
17	chr5:105279400-105279800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:105283200-105283600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:105283200-105283600	Enhancers	NHDF-Ad	bronchial
20	chr5:105287200-105290600	Enhancers	Fetal Lung	lung
21	chr5:105287600-105289200	Enhancers	Brain Germinal Matrix	brain
22	chr5:105288200-105289000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:105288200-105289200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:105288400-105289000	Enhancers	Fetal Brain Male	brain
25	chr5:105288600-105289200	Enhancers	Fetal Brain Female	brain
26	chr5:105288600-105289600	Enhancers	HSMM	muscle
27	chr5:105288800-105289200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:105289000-105292000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:105289200-105292600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:105290200-105290400	Enhancers	Fetal Brain Male	brain
31	chr5:105292000-105293000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:105292200-105292800	Enhancers	Hela-S3	cervix
33	chr5:105292200-105293200	Enhancers	HUVEC	blood vessel
34	chr5:105292400-105292600	Enhancers	Aorta	Aorta
35	chr5:105292400-105292800	Enhancers	NHLF	lung
36	chr5:105292400-105293000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:105292600-105293000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:105297800-105298000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:105299200-105301000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:105299600-105300000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:105299800-105300200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:105304600-105305200	Enhancers	Hela-S3	cervix
43	chr5:105313000-105314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:105314200-105314600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr5:105318000-105318200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:105318000-105318200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:105318200-105318600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:105318200-105320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:105327200-105327800	Enhancers	Fetal Brain Male	brain
50	chr5:105333600-105333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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