Variant report

Variant	nsv1033890
Chromosome Location	chr5:119047791-119133584
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119126307..119128529-chr5:119131393..119133622,2	K562	blood:
2	chr5:118806276..118807504-chr5:119079301..119080297,7	MCF-7	breast:
3	chr5:118806455..118807257-chr5:119079374..119080361,4	MCF-7	breast:
4	chr5:118894367..118897199-chr5:119080311..119081964,2	K562	blood:
5	chr5:119126307..119128529-chr5:119131393..119133622,2	K562	blood:
6	chr3:62651556..62652452-chr5:119117724..119118513,2	MCF-7	breast:
7	chr10:7991136..7992090-chr5:119132393..119133207,2	MCF-7	breast:
8	chr5:119082500..119084067-chr5:119086307..119088713,2	K562	blood:
9	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:
10	chr5:118806209..118806753-chr5:119079435..119080027,2	K562	blood:
11	chr5:119082500..119084067-chr5:119086307..119088713,2	K562	blood:
12	chr5:118806633..118808561-chr5:119073564..119075972,2	MCF-7	breast:
13	chr5:118914344..118915154-chr5:119079337..119079948,2	MCF-7	breast:
14	chr5:119093091..119095460-chr5:119099041..119101933,3	K562	blood:
15	chr5:119093091..119095460-chr5:119099041..119101933,3	K562	blood:

No data

Extended variants
information (count: 2258 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2258 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs162606	chr5:119047791-119047792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11241515	chr5:119047827-119047828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373651930	chr5:119047853-119047854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558974795	chr5:119047876-119047877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572168605	chr5:119047934-119047935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543577446	chr5:119047944-119047945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541247221	chr5:119047955-119047956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554786722	chr5:119047974-119047975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77067633	chr5:119047985-119047986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543734595	chr5:119047994-119047995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563274543	chr5:119048002-119048003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532094061	chr5:119048043-119048044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200049712	chr5:119048046-119048047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186439834	chr5:119048116-119048117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376380403	chr5:119048117-119048118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142654112	chr5:119048160-119048161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189823232	chr5:119048190-119048191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567510674	chr5:119048237-119048238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144951151	chr5:119048265-119048266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550020833	chr5:119048284-119048285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569965841	chr5:119048296-119048297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371071695	chr5:119048300-119048301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151243729	chr5:119048313-119048314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140466015	chr5:119048315-119048316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377498126	chr5:119048317-119048318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373663100	chr5:119048332-119048333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10519605	chr5:119048335-119048336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs162607	chr5:119048423-119048424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150428293	chr5:119048544-119048545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574636284	chr5:119048558-119048559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373851164	chr5:119048579-119048580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537354885	chr5:119048584-119048585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557261375	chr5:119048601-119048602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544594741	chr5:119048604-119048605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576786333	chr5:119048612-119048613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375867605	chr5:119048626-119048627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545814280	chr5:119048629-119048630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559070898	chr5:119048644-119048645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572935291	chr5:119048645-119048646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576353079	chr5:119048695-119048696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2431177	chr5:119048722-119048723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541521062	chr5:119048750-119048751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570626941	chr5:119048751-119048752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561149602	chr5:119048806-119048807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10519606	chr5:119048816-119048817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs138218948	chr5:119048897-119048898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550082478	chr5:119048919-119048920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140965863	chr5:119048936-119048937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532678904	chr5:119048950-119048951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552579884	chr5:119048953-119048954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119047200-119058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:119054200-119054600	Enhancers	Brain Anterior Caudate	brain
3	chr5:119054200-119054600	Enhancers	Brain Hippocampus Middle	brain
4	chr5:119057200-119058000	Enhancers	Fetal Intestine Large	intestine
5	chr5:119065800-119068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:119071000-119071400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:119071400-119071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:119073600-119073800	Enhancers	Fetal Brain Male	brain
9	chr5:119073800-119076400	Weak transcription	Fetal Brain Male	brain
10	chr5:119075000-119075200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:119075200-119088000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:119076400-119076600	Enhancers	Fetal Brain Male	brain
13	chr5:119076600-119077000	Weak transcription	Fetal Brain Male	brain
14	chr5:119077000-119077400	Enhancers	Brain Germinal Matrix	brain
15	chr5:119077000-119078200	Enhancers	Fetal Brain Male	brain
16	chr5:119077600-119078400	Enhancers	Fetal Brain Female	brain
17	chr5:119078200-119092000	Weak transcription	Fetal Brain Male	brain
18	chr5:119081000-119082200	Enhancers	HMEC	breast
19	chr5:119081200-119082400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:119082400-119088800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:119087000-119087400	Active TSS	K562	blood
22	chr5:119088000-119088200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:119088200-119088600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:119088200-119090000	Enhancers	HMEC	breast
25	chr5:119088600-119089000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:119088800-119089200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:119088800-119089600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:119088800-119090400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:119089200-119089600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:119089200-119089600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:119089400-119090000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:119090000-119093400	Weak transcription	HMEC	breast
33	chr5:119090400-119092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:119092000-119092200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:119092000-119092400	Enhancers	Fetal Brain Male	brain
36	chr5:119092200-119093000	Enhancers	Fetal Brain Female	brain
37	chr5:119092600-119093000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:119105000-119105400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:119105000-119105800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:119105200-119106000	Active TSS	Hela-S3	cervix
41	chr5:119105400-119105800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:119105400-119106000	Active TSS	A549	lung
43	chr5:119105600-119106000	Active TSS	HepG2	liver
44	chr5:119114800-119118800	Weak transcription	Right Atrium	heart
45	chr5:119115600-119116400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:119115600-119116800	Enhancers	Dnd41	blood
47	chr5:119115800-119116000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:119116000-119116200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr5:119116000-119116400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
50	chr5:119116000-119116400	Active TSS	H9 Cell Line	embryonic stem cell

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