Variant report

Variant	nsv1029468
Chromosome Location	chr5:100344254-100513327
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:100263056..100263895-chr5:100348346..100349035,2	MCF-7	breast:
2	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
3	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:
4	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
5	chr5:100351813..100355935-chr5:100358534..100361579,4	K562	blood:
6	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
7	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:
8	chr5:100364466..100367048-chr5:100368893..100371760,2	K562	blood:
9	chr5:100378423..100383461-chr5:100383840..100387149,4	K562	blood:

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

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

No data

Extended variants
information (count: 1966 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574109685	chr5:100344283-100344284	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535039723	chr5:100344291-100344292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182671600	chr5:100344355-100344356	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558427280	chr5:100344368-100344369	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545375501	chr5:100344394-100344395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557572590	chr5:100344395-100344396	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575733561	chr5:100344438-100344439	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185723504	chr5:100344450-100344451	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560675094	chr5:100344472-100344473	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528142390	chr5:100344498-100344499	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112301639	chr5:100344513-100344514	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189692602	chr5:100344535-100344536	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115017589	chr5:100344561-100344562	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35090743	chr5:100344568-100344569	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550588278	chr5:100344635-100344636	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182358226	chr5:100344657-100344658	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569066194	chr5:100344696-100344697	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377549930	chr5:100344703-100344704	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs146666531	chr5:100344716-100344717	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188953924	chr5:100344723-100344724	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78596567	chr5:100344736-100344737	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535079173	chr5:100344759-100344760	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7719493	chr5:100344767-100344768	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540969131	chr5:100344803-100344804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140273220	chr5:100344890-100344891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557350193	chr5:100344939-100344940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574828190	chr5:100344970-100344971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575867995	chr5:100345053-100345054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542829750	chr5:100345218-100345219	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542067036	chr5:100345221-100345222	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554705299	chr5:100345279-100345280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572609719	chr5:100345294-100345295	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7709150	chr5:100345307-100345308	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564575926	chr5:100345314-100345315	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531994525	chr5:100345321-100345322	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145971533	chr5:100345326-100345327	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544521395	chr5:100345420-100345421	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111830636	chr5:100345445-100345446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs199792223	chr5:100345532-100345533	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150327400	chr5:100345596-100345597	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs114719159	chr5:100345604-100345605	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193053472	chr5:100345626-100345627	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548413809	chr5:100345628-100345629	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552930119	chr5:100345663-100345664	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184173654	chr5:100345682-100345683	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528638062	chr5:100345693-100345694	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547101644	chr5:100345712-100345713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs145331206	chr5:100345743-100345744	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538680890	chr5:100345853-100345854	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116725437	chr5:100345861-100345862	Enhancers Flanking Active TSS	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100344000-100344600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:100344200-100344400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:100344200-100344400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100344400-100344600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100344400-100345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:100344600-100344800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100344600-100345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:100344800-100345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100345000-100345200	Enhancers	GM12878-XiMat	blood
10	chr5:100345000-100346000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:100345200-100345400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:100345200-100345800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:100345200-100345800	Flanking Active TSS	GM12878-XiMat	blood
14	chr5:100345200-100346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:100345200-100346000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:100345200-100346000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:100345200-100346000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:100345200-100346200	Enhancers	A549	lung
19	chr5:100345400-100345800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:100345400-100345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:100345400-100346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:100345400-100346000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:100345400-100346200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:100345600-100346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:100345600-100346200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:100345800-100346000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:100345800-100346400	Enhancers	GM12878-XiMat	blood
28	chr5:100346000-100346200	Enhancers	Psoas Muscle	Psoas
29	chr5:100346000-100346600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:100346600-100346800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:100346800-100347200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:100347200-100348200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100348200-100348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100348600-100348800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:100354000-100354400	Enhancers	Fetal Kidney	kidney
36	chr5:100362000-100362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:100362000-100364200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:100362800-100363200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:100363200-100363800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:100363400-100363800	Active TSS	Fetal Heart	heart
41	chr5:100364200-100364800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:100364800-100365000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:100374400-100375000	Active TSS	K562	blood
44	chr5:100375000-100376400	Weak transcription	K562	blood
45	chr5:100376400-100377800	Active TSS	K562	blood
46	chr5:100377200-100377400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:100377600-100378000	Active TSS	Placenta	Placenta
48	chr5:100378600-100379000	Enhancers	Stomach Mucosa	stomach
49	chr5:100380200-100380800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:100382600-100383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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