Variant report

Variant	nsv882475
Chromosome Location	chr5:100275313-100390864
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:4)
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	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
2	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
3	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
4	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
5	chr1:149222329..149224621-chr5:100319591..100321091,2	K562	blood:
6	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
7	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
8	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-1	chr5:100348032-100348800	XLOC_004940
2	lnc-ST8SIA4-1	chr5:100348031-100348800	NONHSAT103014
3	lnc-ST8SIA4-1	chr5:100366877-100367064	NONHSAT103014
4	lnc-ST8SIA4-1	chr5:100366878-100367064	XLOC_004940

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1386 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1386 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10515303	chr5:100275313-100275314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534432876	chr5:100275350-100275351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552819067	chr5:100275385-100275386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs72778647	chr5:100275395-100275396	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544715454	chr5:100275479-100275480	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556909976	chr5:100275480-100275481	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188575984	chr5:100275588-100275589	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555776363	chr5:100275628-100275629	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80078480	chr5:100275648-100275649	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192971711	chr5:100275725-100275726	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528325330	chr5:100275730-100275731	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183242063	chr5:100275772-100275773	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371260288	chr5:100275785-100275786	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187340551	chr5:100275798-100275799	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551486709	chr5:100275804-100275805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73777451	chr5:100275808-100275809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148440440	chr5:100275823-100275824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549236579	chr5:100275830-100275831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113831677	chr5:100275867-100275868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527410361	chr5:100275868-100275869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547160188	chr5:100275873-100275874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555488799	chr5:100275924-100275925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150654479	chr5:100275959-100275960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574125896	chr5:100275976-100275977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79884457	chr5:100276000-100276001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191238097	chr5:100276012-100276013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536234272	chr5:100276081-100276082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554938754	chr5:100276088-100276089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183824420	chr5:100276099-100276100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540101753	chr5:100276119-100276120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565044473	chr5:100276157-100276158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189331183	chr5:100276276-100276277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117205259	chr5:100276326-100276327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563362568	chr5:100276355-100276356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556723990	chr5:100276399-100276400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548948309	chr5:100276421-100276422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561284997	chr5:100276435-100276436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10515304	chr5:100276565-100276566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193274654	chr5:100276604-100276605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185655719	chr5:100276609-100276610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190167920	chr5:100276646-100276647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550725513	chr5:100276668-100276669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181875293	chr5:100276709-100276710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536294917	chr5:100276733-100276734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560706600	chr5:100276914-100276915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77470828	chr5:100276922-100276923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73157724	chr5:100276926-100276927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572651682	chr5:100276940-100276941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543264497	chr5:100276946-100276947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185451158	chr5:100276972-100276973	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100270400-100276000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100275400-100275800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:100276000-100276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100276600-100277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100277200-100282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100282800-100283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100289000-100289400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr5:100304000-100305200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100305200-100305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100305400-100305600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100305600-100306200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100306200-100306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100306400-100307200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:100306600-100307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:100306800-100307400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100307400-100309200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:100318600-100319400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:100318600-100320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:100319400-100322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:100319600-100319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:100322800-100326200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:100335400-100336400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:100339400-100340400	Enhancers	Dnd41	blood
24	chr5:100344000-100344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:100344000-100344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100344000-100344600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:100344200-100344400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:100344200-100344400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100344400-100344600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100344400-100345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:100344600-100344800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100344600-100345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:100344800-100345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100345000-100345200	Enhancers	GM12878-XiMat	blood
35	chr5:100345000-100346000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:100345200-100345400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100345200-100345800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:100345200-100345800	Flanking Active TSS	GM12878-XiMat	blood
39	chr5:100345200-100346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:100345200-100346000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:100345200-100346000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:100345200-100346000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:100345200-100346200	Enhancers	A549	lung
44	chr5:100345400-100345800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:100345400-100345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:100345400-100346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:100345400-100346000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:100345400-100346200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:100345600-100346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:100345600-100346200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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