Variant report

Variant	nsv599176
Chromosome Location	chr5:100247554-100775607
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:33)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
2	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
3	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
4	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
5	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
6	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
7	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:
8	chr5:100240183..100242753-chr5:100246346..100248554,2	K562	blood:
9	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
10	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
11	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
12	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
13	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
14	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
15	chr5:100236783..100238679-chr5:100254153..100256403,2	MCF-7	breast:
16	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
17	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
18	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
19	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
20	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
21	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
22	chr5:100237355..100239867-chr5:100247037..100249581,2	MCF-7	breast:
23	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
24	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
25	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
26	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
27	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
28	chr5:100563285..100565946-chr5:100579247..100581269,2	K562	blood:
29	chr5:100263313..100266095-chr5:100272609..100274168,2	K562	blood:
30	chr1:149222329..149224621-chr5:100319591..100321091,2	K562	blood:
31	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
32	chr5:100532253..100534040-chr5:100535262..100538054,2	K562	blood:
33	chr5:100532253..100534040-chr5:100535262..100538054,2	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	chr5:100366877-100367064	NONHSAT103014
3	lnc-ST8SIA4-1	chr5:100366878-100367064	XLOC_004940
4	lnc-ST8SIA4-1	chr5:100348031-100348800	NONHSAT103014

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions
ENSG00000113532	chromatin interactions

Extended variants
information (count: 7524 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7524 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17161238	chr5:100247554-100247555	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569302662	chr5:100247591-100247592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536328294	chr5:100247613-100247614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530822264	chr5:100247636-100247637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543046225	chr5:100247677-100247678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554570170	chr5:100247744-100247745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566523650	chr5:100247754-100247755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534260547	chr5:100247756-100247757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568644667	chr5:100247761-100247762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539109078	chr5:100247803-100247804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187822646	chr5:100247855-100247856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557550922	chr5:100247878-100247879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112870715	chr5:100247879-100247880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544763389	chr5:100247894-100247895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192943671	chr5:100247896-100247897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574613770	chr5:100247897-100247898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371302850	chr5:100247944-100247945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183682390	chr5:100247957-100247958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369519801	chr5:100247994-100247995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546125398	chr5:100248034-100248035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564379732	chr5:100248053-100248054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143185635	chr5:100248101-100248102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188195073	chr5:100248106-100248107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568137807	chr5:100248123-100248124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377692070	chr5:100248131-100248132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562919271	chr5:100248209-100248210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55959219	chr5:100248258-100248259	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs148185734	chr5:100248279-100248280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566538784	chr5:100248290-100248291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533888460	chr5:100248360-100248361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114796634	chr5:100248466-100248467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571091841	chr5:100248483-100248484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180988391	chr5:100248509-100248510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538135369	chr5:100248529-100248530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556762615	chr5:100248546-100248547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141169919	chr5:100248560-100248561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111599449	chr5:100248583-100248584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535552015	chr5:100248587-100248588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75775359	chr5:100248597-100248598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370883130	chr5:100248625-100248626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4703131	chr5:100248643-100248644	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563907425	chr5:100248737-100248738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184869158	chr5:100248769-100248770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543351753	chr5:100248778-100248779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78085130	chr5:100248830-100248831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532379139	chr5:100248836-100248837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529014946	chr5:100248838-100248839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1152127	chr5:100248867-100248868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs58460894	chr5:100248871-100248872	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527695305	chr5:100248937-100248938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Prostate cancer	19363497	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100246200-100252200	Weak transcription	Dnd41	blood
2	chr5:100252200-100252600	Enhancers	Dnd41	blood
3	chr5:100258800-100260000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100270400-100276000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100275400-100275800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:100276000-100276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100276600-100277200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:100277200-100282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100282800-100283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:100289000-100289400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr5:100304000-100305200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100305200-100305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100305400-100305600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100305600-100306200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100306200-100306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100306400-100307200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:100306600-100307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:100306800-100307400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:100307400-100309200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100318600-100319400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:100318600-100320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:100319400-100322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:100319600-100319800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:100322800-100326200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:100335400-100336400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:100339400-100340400	Enhancers	Dnd41	blood
27	chr5:100344000-100344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:100344000-100344200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100344000-100344600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:100344200-100344400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:100344200-100344400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100344400-100344600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100344400-100345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:100344600-100344800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100344600-100345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:100344800-100345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100345000-100345200	Enhancers	GM12878-XiMat	blood
38	chr5:100345000-100346000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:100345200-100345400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100345200-100345800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:100345200-100345800	Flanking Active TSS	GM12878-XiMat	blood
42	chr5:100345200-100346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:100345200-100346000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:100345200-100346000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:100345200-100346000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:100345200-100346200	Enhancers	A549	lung
47	chr5:100345400-100345800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:100345400-100345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:100345400-100346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:100345400-100346000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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