Variant report

Variant	nsv882803
Chromosome Location	chr5:120722413-120873947
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	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
2	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
3	chr5:120739808..120742284-chr5:120742802..120745420,2	K562	blood:
4	chr5:120873429..120875886-chr5:120876778..120878450,2	K562	blood:
5	chr5:120744891..120747171-chr5:120755277..120758269,2	K562	blood:
6	chr12:60563916..60564532-chr5:120756222..120756804,2	MCF-7	breast:
7	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
8	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
9	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
10	chr5:120745325..120747316-chr5:120750608..120752395,2	K562	blood:
11	chr5:120753180..120754863-chr5:120756669..120758697,2	K562	blood:
12	chr5:120753180..120754863-chr5:120756669..120758697,2	K562	blood:
13	chr5:120744891..120747171-chr5:120755277..120758269,2	K562	blood:
14	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
15	chr5:120745325..120747316-chr5:120750608..120752395,2	K562	blood:
16	chr5:120739808..120742284-chr5:120742802..120745420,2	K562	blood:

No data

Extended variants
information (count: 2092 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2092 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs160122	chr5:120722413-120722414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553580813	chr5:120722422-120722423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73283841	chr5:120722439-120722440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562144700	chr5:120722448-120722449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529540505	chr5:120722455-120722456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547970982	chr5:120722462-120722463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559853424	chr5:120722465-120722466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17147688	chr5:120722466-120722467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76108503	chr5:120722476-120722477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570380106	chr5:120722501-120722502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545612218	chr5:120722516-120722517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13436902	chr5:120722518-120722519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs55910257	chr5:120722554-120722555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533610215	chr5:120722569-120722570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549902002	chr5:120722585-120722586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568152146	chr5:120722594-120722595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs160121	chr5:120722596-120722597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371780773	chr5:120722603-120722604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13436912	chr5:120722702-120722703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386691797	chr5:120722740-120722741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572592511	chr5:120722741-120722742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528069126	chr5:120722742-120722743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77482916	chr5:120722761-120722762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558188992	chr5:120722825-120722826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550163078	chr5:120722845-120722846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181914431	chr5:120722858-120722859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565216658	chr5:120722871-120722872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532280761	chr5:120722893-120722894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112177572	chr5:120722901-120722902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562446668	chr5:120722934-120722935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574138493	chr5:120722945-120722946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541257518	chr5:120722984-120722985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201944931	chr5:120722987-120722988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549026598	chr5:120723009-120723010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186984091	chr5:120723027-120723028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559790773	chr5:120723034-120723035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143542933	chr5:120723081-120723082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565724945	chr5:120723142-120723143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563929938	chr5:120723172-120723173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151013385	chr5:120723178-120723179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114684690	chr5:120723308-120723309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568371865	chr5:120723311-120723312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59768572	chr5:120723335-120723336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141144467	chr5:120723344-120723345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373742866	chr5:120723351-120723352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547626283	chr5:120723392-120723393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539676878	chr5:120723395-120723396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373416430	chr5:120723402-120723403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386691798	chr5:120723445-120723446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112683950	chr5:120723452-120723453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120722400-120727000	Weak transcription	Dnd41	blood
2	chr5:120724200-120724600	Enhancers	HUVEC	blood vessel
3	chr5:120725600-120726000	Enhancers	Fetal Heart	heart
4	chr5:120727000-120727400	Enhancers	Dnd41	blood
5	chr5:120735600-120736000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:120737600-120737800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:120737800-120738200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:120738200-120738600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:120738200-120738800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr5:120738200-120738800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:120738800-120739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:120749800-120750200	Enhancers	Fetal Heart	heart
13	chr5:120750600-120751600	Enhancers	Hela-S3	cervix
14	chr5:120750800-120751600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:120751000-120751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:120751000-120752000	Enhancers	Brain Germinal Matrix	brain
17	chr5:120751400-120751800	Enhancers	Adipose Nuclei	Adipose
18	chr5:120751600-120758600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:120756600-120758600	Enhancers	Fetal Lung	lung
20	chr5:120758600-120758800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:120758800-120760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:120760800-120761200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:120765200-120766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:120766200-120766800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:120766400-120766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:120778800-120781200	Enhancers	Dnd41	blood
27	chr5:120794600-120794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:120794800-120796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:120796800-120797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:120797000-120797600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:120797600-120799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:120811600-120812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:120812000-120813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:120813000-120814000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:120813000-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:120813200-120814400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:120813400-120813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:120813400-120814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:120813400-120815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:120813600-120815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:120813600-120815800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:120813800-120814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:120814000-120814200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:120814200-120814400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:120814200-120814600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:120814400-120814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:120814400-120814800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:120814400-120815000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:120814600-120814800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr5:120814600-120815000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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