Variant report

Variant	nsv599175
Chromosome Location	chr5:100060150-100100157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:100096973-100097266	K562	blood:	n/a	n/a
2	BACH1	chr5:100096929-100097209	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr5:100067561-100067816	GM12878	blood:	n/a	n/a
4	BCLAF1	chr5:100067447-100067934	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:100085721-100085891	K562	blood:	n/a	chr5:100085784-100085793 chr5:100085778-100085799 chr5:100085782-100085795 chr5:100085784-100085793 chr5:100085785-100085794
6	CEBPB	chr5:100098712-100099068	A549	lung:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
7	CEBPB	chr5:100098690-100099088	IMR90	lung:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
8	CEBPB	chr5:100098723-100099085	K562	blood:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
9	CEBPB	chr5:100098711-100099058	Hela-S3	cervix:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
10	CEBPB	chr5:100098714-100099073	HepG2	liver:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
11	CEBPB	chr5:100098847-100098971	H1-hESC	embryonic stem cell:	n/a	chr5:100098892-100098903 chr5:100098893-100098902 chr5:100098891-100098904 chr5:100098891-100098902 chr5:100098891-100098904 chr5:100098893-100098902 chr5:100098893-100098902 chr5:100098893-100098902
12	CHD2	chr5:100075856-100076022	GM12878	blood:	n/a	n/a
13	CTCF	chr5:100097840-100097990	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr5:100082640-100082790	BE2_C	brain:	n/a	n/a
15	CTCF	chr5:100085680-100085830	BE2_C	brain:	n/a	n/a
16	CTCF	chr5:100099740-100099890	SK-N-SH_RA	brain:	n/a	n/a
17	CUX1	chr5:100093399-100093587	K562	blood:	n/a	chr5:100093409-100093418
18	EBF1	chr5:100069447-100069579	GM12878	blood:	n/a	n/a
19	EP300	chr5:100091068-100091561	SK-N-SH	brain:	n/a	n/a
20	EP300	chr5:100091077-100091428	MCF-7	breast:	n/a	n/a
21	EP300	chr5:100091063-100091553	MCF-7	breast:	n/a	n/a
22	EP300	chr5:100067058-100067083	GM12878	blood:	n/a	n/a
23	EP300	chr5:100091110-100091570	SK-N-SH_RA	brain:	n/a	n/a
24	ESR1	chr5:100091081-100091402	T-47D	breast:	n/a	n/a
25	ESR1	chr5:100091093-100091344	T-47D	breast:	n/a	n/a
26	FOS	chr5:100096979-100097230	MCF10A-Er-Src	breast:	n/a	chr5:100097111-100097118 chr5:100097111-100097119
27	FOS	chr5:100094699-100094882	MCF10A-Er-Src	breast:	n/a	chr5:100094760-100094771 chr5:100094759-100094766 chr5:100094758-100094767 chr5:100094759-100094768 chr5:100094759-100094767
28	FOS	chr5:100094623-100094830	MCF10A-Er-Src	breast:	n/a	chr5:100094760-100094771 chr5:100094759-100094766 chr5:100094758-100094767 chr5:100094759-100094768 chr5:100094759-100094767
29	FOS	chr5:100094578-100094899	MCF10A-Er-Src	breast:	n/a	chr5:100094760-100094771 chr5:100094759-100094766 chr5:100094758-100094767 chr5:100094759-100094768 chr5:100094759-100094767
30	FOXA1	chr5:100067570-100067856	HepG2	liver:	n/a	n/a
31	FOXA1	chr5:100067598-100067763	T-47D	breast:	n/a	n/a
32	FOXA1	chr5:100067539-100067800	T-47D	breast:	n/a	n/a
33	FOXA1	chr5:100067560-100067827	HepG2	liver:	n/a	n/a
34	FOXA1	chr5:100067524-100067803	HepG2	liver:	n/a	n/a
35	FOXA2	chr5:100067588-100067803	HepG2	liver:	n/a	n/a
36	FOXA2	chr5:100067560-100067876	A549	lung:	n/a	n/a
37	GATA3	chr5:100090944-100091714	SK-N-SH	brain:	n/a	n/a
38	GATA3	chr5:100092834-100093393	MCF-7	breast:	n/a	chr5:100093084-100093091
39	GATA3	chr5:100083727-100083946	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr5:100097864-100098324	SK-N-SH	brain:	n/a	chr5:100098144-100098160 chr5:100098149-100098159
41	GATA3	chr5:100091203-100091563	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr5:100083588-100084256	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr5:100090980-100091644	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr5:100093400-100093782	MCF-7	breast:	n/a	chr5:100093753-100093770
45	GATA3	chr5:100097752-100098403	SK-N-SH	brain:	n/a	chr5:100098144-100098160 chr5:100098149-100098159
46	GATA3	chr5:100083582-100084110	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr5:100091029-100091511	MCF-7	breast:	n/a	n/a
48	IKZF1	chr5:100062394-100062468	GM12878	blood:	n/a	n/a
49	JUND	chr5:100094434-100094713	H1-hESC	embryonic stem cell:	n/a	n/a
50	KAP1	chr5:100094112-100094676	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:100073871..100076252-chrX:117692329..117695024,2	MCF-7	breast:
2	chr5:100079826..100081841-chr5:100089952..100091943,2	K562	blood:
3	chr5:100084872..100087123-chr5:100099781..100102264,2	MCF-7	breast:
4	chr5:100091660..100093864-chr5:100095640..100097485,2	MCF-7	breast:
5	chr5:100088083..100090255-chr5:100094028..100097000,2	MCF-7	breast:
6	chr5:99982875..99983980-chr5:100090231..100091716,20	MCF-7	breast:
7	chr5:100081411..100083893-chr5:100102856..100104705,2	MCF-7	breast:
8	chr5:99983062..99983901-chr5:100090730..100091412,3	MCF-7	breast:
9	chr5:100091660..100093864-chr5:100095640..100097485,2	MCF-7	breast:
10	chr5:100088083..100090255-chr5:100094028..100097000,2	MCF-7	breast:
11	chr5:100084872..100087123-chr5:100099781..100102264,2	MCF-7	breast:
12	chr5:100056227..100057850-chr5:100061884..100063603,2	K562	blood:
13	chr5:100079826..100081841-chr5:100089952..100091943,2	K562	blood:
14	chr5:100032298..100033924-chr5:100061965..100063557,2	K562	blood:
15	chr5:99982908..99983980-chr5:100090394..100091716,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-2	chr5:100068762-100069090	NONHSAT103009

Variant related genes	Relation type
RN7SKP62	TF binding region

Extended variants
information (count: 1009 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13163793	chr5:100060150-100060151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554795540	chr5:100060187-100060188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182420497	chr5:100060211-100060212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186960461	chr5:100060221-100060222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534751301	chr5:100060226-100060227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150844077	chr5:100060232-100060233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369300726	chr5:100060254-100060255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545421433	chr5:100060278-100060279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139310914	chr5:100060286-100060287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34185986	chr5:100060292-100060293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376201676	chr5:100060296-100060297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74688766	chr5:100060348-100060349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369181540	chr5:100060379-100060380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75633964	chr5:100060389-100060390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12515114	chr5:100060413-100060414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs191309267	chr5:100060441-100060442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565000303	chr5:100060457-100060458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149294949	chr5:100060463-100060464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79169371	chr5:100060508-100060509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147417074	chr5:100060562-100060563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376286928	chr5:100060566-100060567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139744097	chr5:100060577-100060578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73775583	chr5:100060581-100060582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370986803	chr5:100060614-100060615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147644784	chr5:100060668-100060669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572519841	chr5:100060720-100060721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553037152	chr5:100060767-100060768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375411245	chr5:100060792-100060793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115020175	chr5:100060823-100060824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2725121	chr5:100060845-100060846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77284847	chr5:100060850-100060851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77688707	chr5:100060892-100060893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182828407	chr5:100060921-100060922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78212042	chr5:100060922-100060923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187727287	chr5:100060928-100060929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576815317	chr5:100060963-100060964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114262294	chr5:100060991-100060992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80085453	chr5:100060992-100060993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148603846	chr5:100061014-100061015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576918714	chr5:100061018-100061019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543974363	chr5:100061054-100061055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6875815	chr5:100061057-100061058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs529670625	chr5:100061071-100061072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548050255	chr5:100061073-100061074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560042026	chr5:100061110-100061111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142062068	chr5:100061165-100061166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552002738	chr5:100061176-100061177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570318048	chr5:100061185-100061186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77003969	chr5:100061187-100061188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151159236	chr5:100061215-100061216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100059600-100061600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:100061600-100062200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:100064000-100066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:100065000-100065200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:100065000-100065200	Enhancers	Dnd41	blood
6	chr5:100065200-100066000	Weak transcription	Dnd41	blood
7	chr5:100066000-100066800	Enhancers	Dnd41	blood
8	chr5:100066800-100067400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:100066800-100067400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:100066800-100067600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:100066800-100068000	Flanking Active TSS	Dnd41	blood
12	chr5:100067000-100067200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:100067000-100067400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:100067200-100067400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:100067200-100067400	Enhancers	Primary T cells from cord blood	blood
16	chr5:100067200-100067400	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:100067200-100067400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:100067200-100067400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:100067200-100067400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:100067200-100067400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:100067200-100067400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:100067200-100067400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:100067200-100067400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:100067200-100067400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:100067200-100067400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:100067200-100067400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:100067200-100067800	Active TSS	GM12878-XiMat	blood
28	chr5:100067200-100068000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:100067200-100068400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:100067400-100067600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr5:100067400-100067600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:100067400-100067600	Active TSS	Hela-S3	cervix
33	chr5:100067400-100067600	Active TSS	Osteobl	bone
34	chr5:100067400-100067800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:100067400-100067800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:100067400-100067800	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:100067400-100067800	Active TSS	Primary T cells fromperipheralblood	blood
38	chr5:100067400-100067800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr5:100067400-100067800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr5:100067400-100067800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr5:100067400-100067800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr5:100067400-100067800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:100067400-100067800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:100067400-100067800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr5:100067400-100067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:100067400-100067800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:100067400-100067800	Active TSS	Adipose Nuclei	Adipose
48	chr5:100067400-100067800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:100067400-100067800	Active TSS	Left Ventricle	heart
50	chr5:100067400-100067800	Active TSS	Rectal Mucosa Donor 29	rectum

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