Variant report

Variant	nsv965014
Chromosome Location	chr5:68919282-68928335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:68926177-68926302	K562	blood:	n/a	n/a
2	CEBPB	chr5:68926064-68926713	K562	blood:	n/a	n/a
3	CEBPD	chr5:68926047-68926457	K562	blood:	n/a	n/a
4	CTCF	chr5:68926100-68926287	K562	blood:	n/a	n/a
5	CTCF	chr5:68926080-68926230	GM12865	blood:	n/a	n/a
6	CTCF	chr5:68926017-68926364	K562	blood:	n/a	n/a
7	CTCF	chr5:68926021-68926381	K562	blood:	n/a	n/a
8	FOSL2	chr5:68920008-68920332	HepG2	liver:	n/a	n/a
9	FOSL2	chr5:68920800-68921041	HepG2	liver:	n/a	n/a
10	FOSL2	chr5:68918695-68919308	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:68919340-68919650	HepG2	liver:	n/a	n/a
12	GABPA	chr5:68925837-68925961	Hela-S3	cervix:	n/a	n/a
13	JUND	chr5:68922781-68922904	HepG2	liver:	n/a	n/a
14	NR2F2	chr5:68926062-68926432	K562	blood:	n/a	n/a
15	PAX5	chr5:68922937-68923118	GM12878	blood:	n/a	n/a
16	PAX5	chr5:68923155-68923712	GM12878	blood:	n/a	n/a
17	PAX5	chr5:68921377-68921734	GM12878	blood:	n/a	n/a
18	PAX5	chr5:68923273-68923715	GM12878	blood:	n/a	n/a
19	PAX5	chr5:68923426-68923646	GM12878	blood:	n/a	n/a
20	PAX5	chr5:68923202-68923782	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:68920759-68921126	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:68927097-68927268	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:68927037-68927328	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:68927089-68927273	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:68927122-68927250	A549	lung:	n/a	n/a
26	POLR2A	chr5:68927112-68927259	A549	lung:	n/a	n/a
27	POLR2A	chr5:68919964-68920172	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:68925492-68925825	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:68920703-68921154	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:68928181-68928481	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:68918800-68919454	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:68919862-68920213	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:68925607-68925811	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:68919063-68919306	GM12878	blood:	n/a	n/a
35	SPI1	chr5:68925830-68925977	K562	blood:	n/a	n/a
36	TCF3	chr5:68927058-68927280	GM12878	blood:	n/a	chr5:68927111-68927121
37	ZBTB33	chr5:68928206-68928478	K562	blood:	n/a	n/a
38	ZBTB33	chr5:68927064-68927289	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF9-6	chr5:68921203-68921727	NONHSAT101933

No data

Variant related genes	Relation type
ENSG00000250138	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4958932	chr5:68921207-68921208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs4958933	chr5:68921263-68921264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs28403237	chr5:68923110-68923111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200552353	chr5:68923146-68923147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201993902	chr5:68923415-68923416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550357718	chr5:68923525-68923526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571907614	chr5:68923543-68923544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79167188	chr5:68923544-68923545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146042216	chr5:68923550-68923551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564412877	chr5:68923555-68923556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138261475	chr5:68923559-68923560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554332431	chr5:68923585-68923586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561891300	chr5:68923679-68923680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529376515	chr5:68923886-68923887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547531819	chr5:68923905-68923906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192657354	chr5:68924113-68924114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2666646	chr5:68924120-68924121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558359918	chr5:68924136-68924137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201097051	chr5:68924236-68924237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566066281	chr5:68924511-68924512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533144737	chr5:68924512-68924513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578194870	chr5:68924576-68924577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71215164	chr5:68925193-68925194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374414458	chr5:68925805-68925806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376022284	chr5:68925920-68925921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370266595	chr5:68926055-68926056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201733573	chr5:68927608-68927609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367926259	chr5:68927623-68927624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570743173	chr5:68927655-68927656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538065674	chr5:68927664-68927665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79147590	chr5:68927676-68927677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374188899	chr5:68927693-68927694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368904163	chr5:68927701-68927702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568202620	chr5:68927712-68927713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372166417	chr5:68927743-68927744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78541768	chr5:68927746-68927747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535547476	chr5:68927766-68927767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553541293	chr5:68927768-68927769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201031170	chr5:68927841-68927842	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201967684	chr5:68927845-68927846	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572031548	chr5:68927863-68927864	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545449469	chr5:68927872-68927873	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558066832	chr5:68927978-68927979	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375884043	chr5:68927988-68927989	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576308900	chr5:68927989-68927990	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201046606	chr5:68928280-68928281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68922800-68927600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:68926600-68929000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:68926600-68929000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:68926600-68929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:68926600-68929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:68926600-68929000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:68926600-68929000	Weak transcription	Brain Germinal Matrix	brain
8	chr5:68926600-68929000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:68926600-68929000	Weak transcription	Fetal Intestine Large	intestine
10	chr5:68926600-68929000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:68926600-68929000	Weak transcription	Fetal Stomach	stomach
12	chr5:68926600-68929000	Weak transcription	Ovary	ovary
13	chr5:68927000-68927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:68927600-68928200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:68927800-68928000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:68927800-68928000	Enhancers	Brain Anterior Caudate	brain
17	chr5:68928000-68928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:68928200-68929800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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