Variant report

Variant	nsv598542
Chromosome Location	chr5:69790644-69824241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:287)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69819313-69819679	GM12878	blood:	n/a	n/a
2	BATF	chr5:69819391-69819676	GM12878	blood:	n/a	n/a
3	BATF	chr5:69798032-69798398	GM12878	blood:	n/a	n/a
4	BATF	chr5:69798110-69798395	GM12878	blood:	n/a	n/a
5	BATF	chr5:69799993-69800148	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:69793467-69793650	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:69798095-69798327	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:69814759-69814942	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:69805923-69806102	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:69814300-69814549	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:69819376-69819608	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:69798117-69798362	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:69811901-69812281	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:69819398-69819643	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:69793016-69793265	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:69790617-69790997	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:69812954-69813154	GM12878	blood:	n/a	n/a
18	CBX3	chr5:69802194-69802561	K562	blood:	n/a	n/a
19	CBX3	chr5:69823474-69823835	K562	blood:	n/a	n/a
20	CEBPB	chr5:69802281-69802474	K562	blood:	n/a	n/a
21	CEBPB	chr5:69823464-69823862	K562	blood:	n/a	n/a
22	CEBPB	chr5:69802137-69802558	K562	blood:	n/a	n/a
23	CEBPD	chr5:69823517-69823915	K562	blood:	n/a	n/a
24	CTCF	chr5:69817787-69818251	K562	blood:	n/a	n/a
25	CTCF	chr5:69817812-69818148	K562	blood:	n/a	n/a
26	CTCF	chr5:69802092-69802448	K562	blood:	n/a	n/a
27	CTCF	chr5:69823355-69823798	K562	blood:	n/a	n/a
28	CTCF	chr5:69802151-69802475	K562	blood:	n/a	n/a
29	CTCF	chr5:69796610-69796803	K562	blood:	n/a	n/a
30	CTCF	chr5:69796470-69796921	K562	blood:	n/a	n/a
31	CTCF	chr5:69823464-69823764	K562	blood:	n/a	n/a
32	CTCF	chr5:69802083-69802490	K562	blood:	n/a	n/a
33	CTCF	chr5:69823437-69823795	K562	blood:	n/a	n/a
34	CTCF	chr5:69796608-69796852	K562	blood:	n/a	n/a
35	EBF1	chr5:69819304-69819677	GM12878	blood:	n/a	n/a
36	EBF1	chr5:69819326-69819682	GM12878	blood:	n/a	n/a
37	EBF1	chr5:69798045-69798401	GM12878	blood:	n/a	n/a
38	EBF1	chr5:69790695-69790858	GM12878	blood:	n/a	n/a
39	EBF1	chr5:69798023-69798396	GM12878	blood:	n/a	n/a
40	EBF1	chr5:69811979-69812142	GM12878	blood:	n/a	n/a
41	EP300	chr5:69791559-69791801	GM12878	blood:	n/a	n/a
42	EP300	chr5:69812843-69813170	GM12878	blood:	n/a	n/a
43	FOSL2	chr5:69800673-69800986	HepG2	liver:	n/a	n/a
44	FOSL2	chr5:69790692-69791014	HepG2	liver:	n/a	n/a
45	FOSL2	chr5:69811976-69812298	HepG2	liver:	n/a	n/a
46	FOSL2	chr5:69821958-69822271	HepG2	liver:	n/a	n/a
47	FOSL2	chr5:69794545-69794767	HepG2	liver:	n/a	n/a
48	FOSL2	chr5:69812851-69813090	HepG2	liver:	n/a	n/a
49	FOSL2	chr5:69815837-69816059	HepG2	liver:	n/a	n/a
50	FOSL2	chr5:69793393-69793666	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69804518-69804568	GM12891	blood:	n/a
2	chr5:69803286-69803336	HUVEC	blood vessel:	n/a
3	chr5:69803286-69803336	PFSK-1	brain:	n/a
4	chr5:69804518-69804568	HCM	heart:	n/a
5	chr5:69804518-69804568	Hela-S3	cervix:	n/a
6	chr5:69803286-69803336	IMR90	lung:	fetal
7	chr5:69804518-69804568	NHBE	bronchial:	n/a
8	chr5:69804518-69804568	A549	lung:	n/a
9	chr5:69803286-69803336	GM06990	blood:	n/a
10	chr5:69803286-69803336	HCM	heart:	n/a
11	chr5:69803286-69803336	HMEC	breast:	n/a
12	chr5:69804518-69804568	MCF-7	breast:	n/a
13	chr5:69804518-69804568	HL-60	blood:	n/a
14	chr5:69804518-69804568	ProgFib	skin:	n/a
15	chr5:69804518-69804568	HCF	heart:	n/a
16	chr5:69804518-69804568	U87	brain:	n/a
17	chr5:69804518-69804568	PANC-1	pancreas:	n/a
18	chr5:69804518-69804568	HUVEC	blood vessel:	n/a
19	chr5:69804518-69804568	AG09319	gingival:	n/a
20	chr5:69804518-69804568	GM19239	blood:	n/a
21	chr5:69804518-69804568	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:69803286-69803336	ovcar-3	ovarian:	n/a
23	chr5:69803286-69803336	HEK293	kidney:	embryo
24	chr5:69803286-69803336	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:69804518-69804568	BE2_C	brain:	n/a
26	chr5:69803286-69803336	NB4	blood:	n/a
27	chr5:69803286-69803336	HCT-116	colon:	n/a
28	chr5:69804518-69804568	HRE	kidney:	n/a
29	chr5:69804518-69804568	K562	blood:	n/a
30	chr5:69803286-69803336	AG09319	gingival:	n/a
31	chr5:69803286-69803336	NH-A	brain:	n/a
32	chr5:69803286-69803336	GM12892	blood:	n/a
33	chr5:69804518-69804568	IMR90	lung:	fetal
34	chr5:69804518-69804568	MCF10A-Er-Src	breast:	n/a
35	chr5:69803286-69803336	HRCEpiC	kidney:	n/a
36	chr5:69804518-69804568	HIPEpiC	eye:	n/a
37	chr5:69803286-69803336	AG04449	skin:	fetal
38	chr5:69803286-69803336	SK-N-SH	brain:	n/a
39	chr5:69803286-69803336	BJ	skin:	n/a
40	chr5:69804518-69804568	PrEC	prostate:	n/a
41	chr5:69803286-69803336	CMK	blood:	n/a
42	chr5:69804518-69804568	ovcar-3	ovarian:	n/a
43	chr5:69804518-69804568	H1-hESC	embryonic stem cell:	embryo
44	chr5:69804518-69804568	HepG2	liver:	n/a
45	chr5:69804518-69804568	SK-N-SH_RA	brain:	n/a
46	chr5:69804518-69804568	Caco-2	colon:	n/a
47	chr5:69803286-69803336	SKMC	muscle:	n/a
48	chr5:69804518-69804568	HAEpiC	amniotic membrane:	n/a
49	chr5:69803286-69803336	A549	lung:	n/a
50	chr5:69803286-69803336	GM19239	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000253333	TF binding region
ENSG00000205565	TF binding region
ENSG00000250918	TF binding region
ENSG00000253333	CpG island
ENSG00000205565	CpG island
ENSG00000250918	CpG island

Extended variants
information (count: 191 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62371815	chr5:69798598-69798599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs569611141	chr5:69798649-69798650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs367960429	chr5:69798867-69798868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189992936	chr5:69799737-69799738	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs181114047	chr5:69802024-69802025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185854339	chr5:69802041-69802042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202236673	chr5:69803281-69803282	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375845898	chr5:69803333-69803334	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs367778756	chr5:69803346-69803347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113952335	chr5:69803354-69803355	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111943312	chr5:69804262-69804263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371345937	chr5:69804431-69804432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530785592	chr5:69804437-69804438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548920862	chr5:69804448-69804449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189828671	chr5:69804469-69804470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534448749	chr5:69804478-69804479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553089608	chr5:69804481-69804482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571305781	chr5:69804547-69804548	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs538637051	chr5:69804549-69804550	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs556952920	chr5:69804627-69804628	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575860991	chr5:69804651-69804652	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376176274	chr5:69804656-69804657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543268561	chr5:69804657-69804658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369138651	chr5:69804675-69804676	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs202035712	chr5:69804678-69804679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573362775	chr5:69804683-69804684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371936569	chr5:69804734-69804735	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142658763	chr5:69804741-69804742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs147645033	chr5:69804746-69804747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369511560	chr5:69804751-69804752	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs180970538	chr5:69804755-69804756	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532417371	chr5:69804761-69804762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs186388687	chr5:69804789-69804790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552750985	chr5:69804791-69804792	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369263654	chr5:69804827-69804828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544203222	chr5:69804850-69804851	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372506483	chr5:69804898-69804899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377178868	chr5:69804903-69804904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530736844	chr5:69804929-69804930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370502225	chr5:69804958-69804959	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200009489	chr5:69804971-69804972	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375235362	chr5:69804997-69804998	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377684652	chr5:69805010-69805011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567384761	chr5:69805026-69805027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201145291	chr5:69805041-69805042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370901650	chr5:69805054-69805055	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201965939	chr5:69805087-69805088	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs190922653	chr5:69805094-69805095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs140986657	chr5:69805100-69805101	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368548272	chr5:69805125-69805126	Weak transcription	TF binding region	1 gene(s)	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69798800-69808600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:69801800-69808400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:69802800-69808600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:69803200-69812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:69803600-69812600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:69805000-69812400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:69805000-69812600	Weak transcription	Fetal Stomach	stomach
8	chr5:69806000-69806200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:69806200-69806600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:69806400-69809200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:69806600-69807000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:69807000-69807600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:69807000-69808600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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