Variant report

Variant	nsv882805
Chromosome Location	chr5:120732139-120818132
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
2	chr5:120753180..120754863-chr5:120756669..120758697,2	K562	blood:
3	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
4	chr5:120745325..120747316-chr5:120750608..120752395,2	K562	blood:
5	chr5:120744891..120747171-chr5:120755277..120758269,2	K562	blood:
6	chr12:60563916..60564532-chr5:120756222..120756804,2	MCF-7	breast:
7	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
8	chr5:120753180..120754863-chr5:120756669..120758697,2	K562	blood:
9	chr5:120744891..120747171-chr5:120755277..120758269,2	K562	blood:
10	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
11	chr5:120745325..120747316-chr5:120750608..120752395,2	K562	blood:
12	chr5:120739808..120742284-chr5:120742802..120745420,2	K562	blood:
13	chr5:120739808..120742284-chr5:120742802..120745420,2	K562	blood:

No data

Extended variants
information (count: 1218 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1218 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186146739	chr5:120735605-120735606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73283887	chr5:120735621-120735622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111779191	chr5:120735633-120735634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547546468	chr5:120735659-120735660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535527122	chr5:120735686-120735687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72800124	chr5:120735692-120735693	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs795181	chr5:120735755-120735756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142813958	chr5:120735762-120735763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79231655	chr5:120735837-120735838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564329518	chr5:120735842-120735843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147397480	chr5:120735861-120735862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570008328	chr5:120735865-120735866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140541407	chr5:120735909-120735910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377114042	chr5:120735911-120735912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189052442	chr5:120735936-120735937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113897718	chr5:120737602-120737603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545084562	chr5:120737604-120737605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2548393	chr5:120737605-120737606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114108432	chr5:120737619-120737620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551795067	chr5:120737677-120737678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542629569	chr5:120737681-120737682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561589097	chr5:120737683-120737684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140272212	chr5:120737686-120737687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547309935	chr5:120737693-120737694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565318849	chr5:120737711-120737712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532779372	chr5:120737775-120737776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145110713	chr5:120737792-120737793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560493287	chr5:120737795-120737796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146834793	chr5:120737796-120737797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537003851	chr5:120737845-120737846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113393678	chr5:120737856-120737857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370231339	chr5:120737896-120737897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567300955	chr5:120737928-120737929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189702249	chr5:120737934-120737935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553267962	chr5:120737967-120737968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577397001	chr5:120738005-120738006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538469960	chr5:120738010-120738011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557003417	chr5:120738031-120738032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527638847	chr5:120738046-120738047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542756293	chr5:120738047-120738048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183460846	chr5:120738060-120738061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573221832	chr5:120738073-120738074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540547427	chr5:120738084-120738085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565592264	chr5:120738100-120738101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202150882	chr5:120738144-120738145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111960971	chr5:120738157-120738158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs711416	chr5:120738185-120738186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551205755	chr5:120738231-120738232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs711415	chr5:120738267-120738268	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187799179	chr5:120738272-120738273	ZNF genes & repeats	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120735600-120736000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120737600-120737800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:120737800-120738200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:120738200-120738600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:120738200-120738800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr5:120738200-120738800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:120738800-120739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:120749800-120750200	Enhancers	Fetal Heart	heart
9	chr5:120750600-120751600	Enhancers	Hela-S3	cervix
10	chr5:120750800-120751600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:120751000-120751400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:120751000-120752000	Enhancers	Brain Germinal Matrix	brain
13	chr5:120751400-120751800	Enhancers	Adipose Nuclei	Adipose
14	chr5:120751600-120758600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:120756600-120758600	Enhancers	Fetal Lung	lung
16	chr5:120758600-120758800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:120758800-120760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:120760800-120761200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:120765200-120766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:120766200-120766800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:120766400-120766600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:120778800-120781200	Enhancers	Dnd41	blood
23	chr5:120794600-120794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:120794800-120796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:120796800-120797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:120797000-120797600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:120797600-120799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:120811600-120812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:120812000-120813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:120813000-120814000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:120813000-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:120813200-120814400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:120813400-120813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:120813400-120814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:120813400-120815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:120813600-120815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:120813600-120815800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:120813800-120814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:120814000-120814200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:120814200-120814400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:120814200-120814600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:120814400-120814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:120814400-120814800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:120814400-120815000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:120814600-120814800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr5:120814600-120815000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:120814600-120815400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:120814800-120815400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:120814800-120815800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:120815000-120815200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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