Variant report

Variant	nsv1023318
Chromosome Location	chr5:100287947-100492390
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:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
2	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
3	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
4	chr1:149222329..149224621-chr5:100319591..100321091,2	K562	blood:
5	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
6	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
7	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
8	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
9	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
10	chr5:100420424..100422680-chr5:100454065..100456337,2	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	chr5:100366878-100367064	XLOC_004940
4	lnc-ST8SIA4-1	chr5:100366877-100367064	NONHSAT103014

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 2304 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2304 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533408920	chr5:100289029-100289030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182939814	chr5:100289037-100289038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2895683	chr5:100289048-100289049	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530988340	chr5:100289061-100289062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549094530	chr5:100289084-100289085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567237933	chr5:100289085-100289086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534658332	chr5:100289103-100289104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536248175	chr5:100289107-100289108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554731254	chr5:100289130-100289131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201857245	chr5:100289168-100289169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552956761	chr5:100289225-100289226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187330874	chr5:100289229-100289230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576187361	chr5:100289286-100289287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111357820	chr5:100289325-100289326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10570623	chr5:100304012-100304013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34023504	chr5:100304013-100304014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs397826507	chr5:100304022-100304023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs6866963	chr5:100304025-100304026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552991342	chr5:100304026-100304027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571515206	chr5:100304029-100304030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs57869126	chr5:100304054-100304055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs3900380	chr5:100304074-100304075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141796977	chr5:100304106-100304107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189422675	chr5:100304166-100304167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537175829	chr5:100304194-100304195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146270187	chr5:100304271-100304272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs139368450	chr5:100304273-100304274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535012060	chr5:100304280-100304281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs377123474	chr5:100304297-100304298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs553391755	chr5:100304314-100304315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs578164527	chr5:100304329-100304330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs545290630	chr5:100304332-100304333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144153537	chr5:100304353-100304354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114882693	chr5:100304368-100304369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542780213	chr5:100304399-100304400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371886373	chr5:100304401-100304402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550362287	chr5:100304409-100304410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191607244	chr5:100304413-100304414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539247474	chr5:100304447-100304448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375179177	chr5:100304464-100304465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184734813	chr5:100304554-100304555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565047595	chr5:100304561-100304562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532408162	chr5:100304588-100304589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550437835	chr5:100304640-100304641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189513981	chr5:100304643-100304644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369835629	chr5:100304652-100304653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115527694	chr5:100304678-100304679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7708851	chr5:100304691-100304692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567702469	chr5:100304706-100304707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534715780	chr5:100304773-100304774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Prostate cancer	19363497	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100289000-100289400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
2	chr5:100304000-100305200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100305200-100305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100305400-100305600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100305600-100306200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100306200-100306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100306400-100307200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:100306600-100307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:100306800-100307400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100307400-100309200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:100318600-100319400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:100318600-100320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:100319400-100322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:100319600-100319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:100322800-100326200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:100335400-100336400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:100339400-100340400	Enhancers	Dnd41	blood
18	chr5:100344000-100344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:100344000-100344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100344000-100344600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:100344200-100344400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:100344200-100344400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:100344400-100344600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:100344400-100345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:100344600-100344800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:100344600-100345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:100344800-100345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:100345000-100345200	Enhancers	GM12878-XiMat	blood
29	chr5:100345000-100346000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:100345200-100345400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:100345200-100345800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:100345200-100345800	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:100345200-100346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:100345200-100346000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:100345200-100346000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:100345200-100346000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:100345200-100346200	Enhancers	A549	lung
38	chr5:100345400-100345800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:100345400-100345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100345400-100346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:100345400-100346000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:100345400-100346200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:100345600-100346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:100345600-100346200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:100345800-100346000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:100345800-100346400	Enhancers	GM12878-XiMat	blood
47	chr5:100346000-100346200	Enhancers	Psoas Muscle	Psoas
48	chr5:100346000-100346600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:100346600-100346800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:100346800-100347200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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