Variant report

Variant	nsv882782
Chromosome Location	chr5:119526332-119627087
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119522399..119524409-chr5:119526483..119528951,2	K562	blood:
2	chr14:81685904..81686476-chr5:119526721..119527705,2	NB4	blood:
3	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
4	chr5:119611234..119613467-chr5:119620898..119622860,2	K562	blood:
5	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:
6	chr5:119605903..119607846-chr5:119609534..119611047,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-4	chr5:119581143-119581328	XLOC_004969

No data

Extended variants
information (count: 1623 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548423303	chr5:119527805-119527806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540732621	chr5:119527832-119527833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147164537	chr5:119527839-119527840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577263540	chr5:119527845-119527846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546243444	chr5:119527861-119527862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138773612	chr5:119527900-119527901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528408722	chr5:119527918-119527919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548343270	chr5:119527924-119527925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569807878	chr5:119527937-119527938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564222249	chr5:119529201-119529202	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112950948	chr5:119529214-119529215	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs563988257	chr5:119529235-119529236	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs115871785	chr5:119529251-119529252	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs139231531	chr5:119529259-119529260	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs139248372	chr5:119529297-119529298	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185709699	chr5:119529311-119529312	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs372175114	chr5:119529345-119529346	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs17146250	chr5:119529359-119529360	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149995355	chr5:119529369-119529370	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs189368574	chr5:119529389-119529390	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs111714190	chr5:119529408-119529409	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs531258214	chr5:119529416-119529417	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146570183	chr5:119529422-119529423	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs373663230	chr5:119529467-119529468	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs577396224	chr5:119529469-119529470	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs141314331	chr5:119529470-119529471	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs143710562	chr5:119529503-119529504	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs146716569	chr5:119529531-119529532	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs148878373	chr5:119529542-119529543	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs548480205	chr5:119529606-119529607	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs566975481	chr5:119529607-119529608	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs535447065	chr5:119529613-119529614	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs555761525	chr5:119529624-119529625	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs575446485	chr5:119529649-119529650	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs564780335	chr5:119529712-119529713	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs537789969	chr5:119529726-119529727	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs370337828	chr5:119529746-119529747	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs181656897	chr5:119529764-119529765	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577374112	chr5:119529803-119529804	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184675552	chr5:119529836-119529837	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114618938	chr5:119529841-119529842	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573716922	chr5:119529847-119529848	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563663184	chr5:119529867-119529868	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143583508	chr5:119529868-119529869	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562548354	chr5:119529897-119529898	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569865227	chr5:119529908-119529909	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537669788	chr5:119529921-119529922	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551252826	chr5:119529932-119529933	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552357456	chr5:119530013-119530014	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs533537029	chr5:119530017-119530018	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119527800-119528000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:119529200-119530000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr5:119529600-119530400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr5:119529800-119530000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr5:119529800-119530200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:119530000-119530200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:119530000-119530200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:119530000-119530200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr5:119530000-119530400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr5:119530200-119530400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:119530200-119530400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr5:119530200-119531400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:119530400-119531400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:119530400-119531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:119531200-119531600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:119531400-119531600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:119531400-119531600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:119531400-119531800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr5:119531400-119531800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr5:119531400-119532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:119531400-119532200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:119531600-119531800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr5:119533000-119533200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr5:119533000-119533400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr5:119533000-119533400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr5:119533200-119533400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:119533200-119533600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:119533400-119533600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:119535400-119535800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:119542000-119542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:119542200-119542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:119542200-119542400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:119542200-119542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:119542200-119542400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:119542200-119542800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:119542200-119543000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:119542400-119542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:119542400-119542800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:119542400-119542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:119542400-119543000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:119542400-119543000	Active TSS	Osteobl	bone
45	chr5:119542400-119543200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:119542400-119543200	Enhancers	NHDF-Ad	bronchial
47	chr5:119542600-119542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:119542800-119543000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:119542800-119543200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:119542800-119543200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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