Variant report

Variant	nsv598539
Chromosome Location	chr5:69742545-69781694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69753018-69753328	GM12878	blood:	n/a	n/a
2	BCL11A	chr5:69752885-69753406	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:69753005-69753291	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:69781664-69782080	K562	blood:	n/a	n/a
5	CTCF	chr5:69769552-69769736	A549	lung:	n/a	n/a
6	CTCF	chr5:69745567-69745694	LNCaP	prostate:	n/a	n/a
7	CTCF	chr5:69781638-69781972	K562	blood:	n/a	n/a
8	CTCF	chr5:69769418-69769768	K562	blood:	n/a	n/a
9	CTCF	chr5:69752751-69752752	GM10248	blood:	n/a	n/a
10	CTCF	chr5:69769472-69769783	K562	blood:	n/a	n/a
11	CTCF	chr5:69769550-69769621	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr5:69781660-69782018	K562	blood:	n/a	n/a
13	CTCF	chr5:69781693-69781995	K562	blood:	n/a	n/a
14	CTCF	chr5:69769416-69769782	A549	lung:	n/a	n/a
15	CTCF	chr5:69769471-69769899	K562	blood:	n/a	n/a
16	CTCF	chr5:69752763-69752823	GM10248	blood:	n/a	n/a
17	EBF1	chr5:69760028-69760348	GM12878	blood:	n/a	n/a
18	EBF1	chr5:69753017-69753402	GM12878	blood:	n/a	n/a
19	EP300	chr5:69769573-69769772	GM12878	blood:	n/a	n/a
20	ESR1	chr5:69754995-69755378	T-47D	breast:	n/a	n/a
21	ESR1	chr5:69754993-69755406	T-47D	breast:	n/a	n/a
22	FOSL2	chr5:69773830-69774443	HepG2	liver:	n/a	n/a
23	FOSL2	chr5:69775073-69775522	HepG2	liver:	n/a	n/a
24	FOSL2	chr5:69765809-69766245	HepG2	liver:	n/a	n/a
25	FOSL2	chr5:69769329-69770179	HepG2	liver:	n/a	chr5:69769812-69769823
26	FOSL2	chr5:69775936-69776177	HepG2	liver:	n/a	n/a
27	FOSL2	chr5:69772810-69773402	HepG2	liver:	n/a	n/a
28	FOSL2	chr5:69769405-69770159	HepG2	liver:	n/a	chr5:69769812-69769823
29	FOSL2	chr5:69771193-69771662	HepG2	liver:	n/a	chr5:69771428-69771436
30	FOSL2	chr5:69768510-69768836	HepG2	liver:	n/a	n/a
31	FOXA1	chr5:69774475-69774785	HepG2	liver:	n/a	n/a
32	FOXA1	chr5:69755066-69755396	HepG2	liver:	n/a	n/a
33	FOXA1	chr5:69745291-69745819	HepG2	liver:	n/a	n/a
34	FOXA1	chr5:69769080-69770295	HepG2	liver:	n/a	n/a
35	GABPA	chr5:69781476-69781600	Hela-S3	cervix:	n/a	n/a
36	GATA2	chr5:69745373-69745807	K562	blood:	n/a	chr5:69745625-69745637 chr5:69745627-69745635
37	GATA2	chr5:69766617-69767051	K562	blood:	n/a	n/a
38	HEY1	chr5:69769468-69769819	HepG2	liver:	n/a	n/a
39	IRF4	chr5:69759971-69760374	GM12878	blood:	n/a	n/a
40	IRF4	chr5:69752835-69753489	GM12878	blood:	n/a	n/a
41	IRF4	chr5:69769504-69769852	GM12878	blood:	n/a	n/a
42	IRF4	chr5:69769457-69769813	GM12878	blood:	n/a	n/a
43	IRF4	chr5:69752791-69753683	GM12878	blood:	n/a	n/a
44	JUND	chr5:69770260-69770451	HepG2	liver:	n/a	n/a
45	JUND	chr5:69769533-69769722	HepG2	liver:	n/a	n/a
46	JUND	chr5:69778416-69778539	HepG2	liver:	n/a	n/a
47	JUND	chr5:69769502-69769813	HepG2	liver:	n/a	n/a
48	JUND	chr5:69769900-69770177	HepG2	liver:	n/a	n/a
49	JUND	chr5:69770011-69770130	HepG2	liver:	n/a	n/a
50	JUND	chr5:69771278-69771464	HepG2	liver:	n/a	chr5:69771428-69771436

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMN2-2	chr5:69745463-69746180	ENSG00000269983.1
2	lnc-NAIP-2	chr5:69776697-69777165	NONHSAT101978

No data

Variant related genes	Relation type
ENSG00000237075	TF binding region
ENSG00000250687	TF binding region
ENSG00000269983	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79591973	chr5:69742545-69742546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566106077	chr5:69743577-69743578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369934783	chr5:69743833-69743834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539942196	chr5:69743887-69743888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372920488	chr5:69745241-69745242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573691863	chr5:69745409-69745410	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374333686	chr5:69745410-69745411	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558262144	chr5:69746274-69746275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111708046	chr5:69746315-69746316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570662354	chr5:69746609-69746610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576539937	chr5:69748364-69748365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554868993	chr5:69748561-69748562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535459742	chr5:69748896-69748897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537439714	chr5:69748933-69748934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555752675	chr5:69748937-69748938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79005997	chr5:69753111-69753112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377233943	chr5:69753120-69753121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369739445	chr5:69753186-69753187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs202096607	chr5:69753238-69753239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531251206	chr5:69753499-69753500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561483340	chr5:69753969-69753970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529604820	chr5:69753991-69753992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547745233	chr5:69754076-69754077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs62371812	chr5:69754929-69754930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199515205	chr5:69755004-69755005	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192070142	chr5:69755087-69755088	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534446143	chr5:69755144-69755145	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs138403865	chr5:69755157-69755158	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577270626	chr5:69755180-69755181	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538305504	chr5:69755195-69755196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570166338	chr5:69755202-69755203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556615208	chr5:69755235-69755236	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537501659	chr5:69755283-69755284	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs477367	chr5:69755950-69755951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs515757	chr5:69756041-69756042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555814394	chr5:69756108-69756109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76449491	chr5:69756225-69756226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377542468	chr5:69756236-69756237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567525803	chr5:69758745-69758746	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199994322	chr5:69759018-69759019	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs207725	chr5:69759186-69759187	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112989046	chr5:69760992-69760993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78689745	chr5:69761189-69761190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75862166	chr5:69761192-69761193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535771280	chr5:69762234-69762235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377401260	chr5:69762332-69762333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200638600	chr5:69762550-69762551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371718688	chr5:69762588-69762589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553769065	chr5:69763755-69763756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572248753	chr5:69763906-69763907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Breast cancer	21509527	CNVD
Disease	19212409	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69729400-69745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:69734200-69745000	Weak transcription	Fetal Stomach	stomach
3	chr5:69734400-69744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:69734600-69745000	Weak transcription	Fetal Intestine Small	intestine
5	chr5:69734800-69745000	Weak transcription	Fetal Thymus	thymus
6	chr5:69738800-69744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:69738800-69748800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:69748800-69749000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:69754800-69755400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:69755000-69755400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:69755400-69758600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:69755400-69758600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:69758600-69759000	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr5:69758600-69759000	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:69758600-69759000	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:69758600-69759600	Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:69759000-69767800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:69759600-69760800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:69760800-69761200	Enhancers	Primary neutrophils fromperipheralblood	blood

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