Variant report

Variant	nsv882426
Chromosome Location	chr5:98957931-99052680
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
2	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
3	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
4	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
5	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
6	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
7	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
8	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:

No data

Extended variants
information (count: 492 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9326847	chr5:98957931-98957932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs137990280	chr5:98957954-98957955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56172329	chr5:98958002-98958003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548096726	chr5:98958020-98958021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554340995	chr5:98958021-98958022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142574492	chr5:98958025-98958026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375138799	chr5:98958080-98958081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552906460	chr5:98958089-98958090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35912407	chr5:98958150-98958151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61630455	chr5:98958196-98958197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116700381	chr5:98958255-98958256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557013286	chr5:98958261-98958262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192138846	chr5:98958278-98958279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55802862	chr5:98958284-98958285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543172759	chr5:98958288-98958289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561345779	chr5:98958381-98958382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146009317	chr5:98958398-98958399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34740263	chr5:98958449-98958450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533851463	chr5:98958511-98958512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573792219	chr5:98958517-98958518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148690612	chr5:98958526-98958527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548790035	chr5:98958573-98958574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142242353	chr5:98958574-98958575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182723069	chr5:98958575-98958576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56117337	chr5:98958580-98958581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189146650	chr5:98958592-98958593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115974313	chr5:98972022-98972023	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560883280	chr5:98972023-98972024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528127453	chr5:98972033-98972034	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2548104	chr5:98972049-98972050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539927763	chr5:98972092-98972093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565038035	chr5:98972097-98972098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532196896	chr5:98972098-98972099	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562352430	chr5:98972115-98972116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550759663	chr5:98972156-98972157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568762039	chr5:98972158-98972159	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73151757	chr5:98972202-98972203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182614062	chr5:98972221-98972222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551290735	chr5:98972259-98972260	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35677239	chr5:98972323-98972324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376081559	chr5:98972337-98972338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563112900	chr5:98972365-98972366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140132202	chr5:98972378-98972379	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10043675	chr5:98979029-98979030	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111822938	chr5:98979049-98979050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550495440	chr5:98979069-98979070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192783274	chr5:98979078-98979079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112633646	chr5:98979127-98979128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549052792	chr5:98979156-98979157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540582146	chr5:98979166-98979167	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98957600-98958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98957800-98958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:98957800-98958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:98957800-98958400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:98958000-98958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:98958000-98958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:98972000-98972400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:98979000-98979200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:98981800-98982200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:98981800-98982200	Enhancers	NHEK	skin
11	chr5:98982000-98982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:98982200-98983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:98983600-98983800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:98983800-98984800	Enhancers	Fetal Heart	heart
15	chr5:98984800-98985800	Weak transcription	Fetal Heart	heart
16	chr5:98985800-98986000	Enhancers	Fetal Heart	heart
17	chr5:98993800-98994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:99010000-99010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:99011600-99012000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:99011600-99012000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:99011800-99012200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:99014800-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:99015000-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:99023800-99024200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:99029200-99029400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:99030400-99030800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:99030400-99030800	Active TSS	A549	lung
28	chr5:99034000-99035200	Enhancers	HUVEC	blood vessel
29	chr5:99038200-99039000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:99038600-99039200	Enhancers	NHEK	skin
31	chr5:99042000-99042200	ZNF genes & repeats	Gastric	stomach
32	chr5:99042200-99043600	Weak transcription	Gastric	stomach
33	chr5:99043600-99043800	ZNF genes & repeats	Gastric	stomach

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