Variant report

Variant	nsv882644
Chromosome Location	chr5:104934246-105056118
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104995980..104998958-chr5:105000581..105003176,3	MCF-7	breast:
2	chr5:104952188..104952864-chr5:105577091..105577886,5	MCF-7	breast:
3	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
4	chr5:104952005..104953083-chr5:105576858..105577888,8	MCF-7	breast:
5	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
6	chr5:104952039..104952571-chr5:105577029..105577838,2	MCF-7	breast:
7	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
8	chr5:104995980..104998958-chr5:105000581..105003176,3	MCF-7	breast:
9	chr5:104955524..104956144-chr5:105577134..105577974,2	MCF-7	breast:
10	chr5:105020604..105022819-chr5:105026023..105028609,2	K562	blood:
11	chr5:104955261..104956180-chr5:105577014..105577827,4	MCF-7	breast:
12	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
13	chr5:104952005..104953083-chr5:105576858..105577888,9	MCF-7	breast:
14	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
15	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
16	chr5:105020604..105022819-chr5:105026023..105028609,2	K562	blood:

No data

Extended variants
information (count: 1417 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1417 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115846199	chr5:104952414-104952415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548081118	chr5:104952444-104952445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11954972	chr5:104952445-104952446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373469532	chr5:104952476-104952477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150994813	chr5:104952484-104952485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184526552	chr5:104952490-104952491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75180420	chr5:104952507-104952508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189449006	chr5:104952568-104952569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66812017	chr5:104952574-104952575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556233269	chr5:104952612-104952613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549079464	chr5:104952613-104952614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116715764	chr5:104952620-104952621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568180855	chr5:104952737-104952738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562391779	chr5:104952755-104952756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77039941	chr5:104952774-104952775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535575588	chr5:104952824-104952825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541644351	chr5:104952842-104952843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564405109	chr5:104952859-104952860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533517750	chr5:104952866-104952867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549899549	chr5:104952909-104952910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181206798	chr5:104952948-104952949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529269681	chr5:104952949-104952950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548044031	chr5:104952957-104952958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142060730	chr5:104952966-104952967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113373054	chr5:104952974-104952975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547615878	chr5:104953007-104953008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543542673	chr5:104953041-104953042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570443261	chr5:104953123-104953124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554296633	chr5:104953152-104953153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11242562	chr5:104953192-104953193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112790352	chr5:104953208-104953209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111854302	chr5:104953251-104953252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79327154	chr5:104953301-104953302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12153102	chr5:104953371-104953372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374529603	chr5:104953385-104953386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184907159	chr5:104953392-104953393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145875115	chr5:104953404-104953405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556080042	chr5:104953421-104953422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572729417	chr5:104953452-104953453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541264566	chr5:104953476-104953477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77577372	chr5:104953493-104953494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558573542	chr5:104953530-104953531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79954319	chr5:104953541-104953542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72400368	chr5:104953542-104953543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34363957	chr5:104953545-104953546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34676751	chr5:104953589-104953590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563455222	chr5:104953607-104953608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559319239	chr5:104953611-104953612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574536005	chr5:104953645-104953646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529231949	chr5:104953717-104953718	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104952400-104954400	Enhancers	Fetal Lung	lung
2	chr5:104966400-104967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:104974000-104974400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:104974000-104974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:104974000-104974600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:104974000-104975200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:104974000-104975400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:104974200-104975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:104974800-104975000	ZNF genes & repeats	Pancreas	Pancrea
10	chr5:104974800-104975200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:104974800-104975200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:104974800-104975200	Enhancers	Placenta	Placenta
13	chr5:104975200-104977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:104996400-104996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:105003800-105010400	Weak transcription	Aorta	Aorta
16	chr5:105005200-105006600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:105010400-105010600	Enhancers	Aorta	Aorta
18	chr5:105010600-105033400	Weak transcription	Aorta	Aorta
19	chr5:105012800-105013600	Enhancers	HUVEC	blood vessel
20	chr5:105020000-105021400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:105020400-105020800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:105021200-105021400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr5:105022000-105023200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:105022200-105023000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:105022200-105024800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:105022200-105024800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:105022400-105023200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:105022400-105023800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:105022400-105024600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:105022600-105023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:105022800-105023000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:105022800-105023000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:105023000-105023200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:105023000-105023200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:105023000-105023200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:105023000-105023400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr5:105023000-105023600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:105023200-105023600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:105023200-105023800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:105023200-105024000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:105023200-105024200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:105023200-105025000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:105023200-105033800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:105023400-105023800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:105023400-105024600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:105023600-105024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:105023600-105024600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:105023800-105024200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:105023800-105024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:105023800-105024600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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