Variant report

Variant	nsv10715
Chromosome Location	chr5:93901950-93908462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:552)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:93907245-93907380	K562	blood:	n/a	n/a
2	BACH1	chr5:93906425-93906795	K562	blood:	n/a	n/a
3	BATF	chr5:93904840-93904991	GM12878	blood:	n/a	n/a
4	BATF	chr5:93905010-93905392	GM12878	blood:	n/a	n/a
5	BATF	chr5:93903523-93903801	GM12878	blood:	n/a	n/a
6	BATF	chr5:93904917-93905390	GM12878	blood:	n/a	n/a
7	BATF	chr5:93903510-93903893	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:93903567-93903780	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:93904917-93905385	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:93903626-93904174	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:93904555-93905402	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:93906395-93906666	HepG2	liver:	n/a	n/a
13	BHLHE40	chr5:93903937-93904215	HepG2	liver:	n/a	n/a
14	BHLHE40	chr5:93904575-93904821	HepG2	liver:	n/a	n/a
15	BHLHE40	chr5:93903526-93903933	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:93904828-93905314	HepG2	liver:	n/a	n/a
17	BRCA1	chr5:93905504-93905513	GM12878	blood:	n/a	n/a
18	CEBPD	chr5:93904908-93905441	K562	blood:	n/a	n/a
19	CTCF	chr5:93904987-93905298	K562	blood:	n/a	n/a
20	EBF1	chr5:93905016-93905385	GM12878	blood:	n/a	n/a
21	EBF1	chr5:93905008-93905392	GM12878	blood:	n/a	n/a
22	EP300	chr5:93907223-93907509	GM12878	blood:	n/a	n/a
23	EP300	chr5:93904818-93905448	GM12878	blood:	n/a	n/a
24	EP300	chr5:93905018-93905322	GM12878	blood:	n/a	n/a
25	FOSL2	chr5:93904551-93905333	HepG2	liver:	n/a	n/a
26	FOSL2	chr5:93905004-93905417	HepG2	liver:	n/a	n/a
27	FOSL2	chr5:93903526-93903933	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:93904812-93905328	HepG2	liver:	n/a	n/a
29	FOXM1	chr5:93904784-93905522	GM12878	blood:	n/a	n/a
30	FOXP2	chr5:93905030-93905274	PFSK-1	brain:	n/a	n/a
31	FOXP2	chr5:93905027-93905276	SK-N-MC	brain:	n/a	n/a
32	FOXP2	chr5:93903901-93904129	PFSK-1	brain:	n/a	n/a
33	GABPA	chr5:93905010-93905311	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr5:93905031-93905255	Hela-S3	cervix:	n/a	n/a
35	GATA2	chr5:93904916-93905425	K562	blood:	n/a	n/a
36	HEY1	chr5:93903811-93904171	HepG2	liver:	n/a	n/a
37	HEY1	chr5:93904923-93905288	K562	blood:	n/a	n/a
38	HEY1	chr5:93905027-93905275	HepG2	liver:	n/a	n/a
39	HEY1	chr5:93904565-93904823	HepG2	liver:	n/a	n/a
40	HEY1	chr5:93904854-93904970	HepG2	liver:	n/a	n/a
41	HEY1	chr5:93904826-93905426	HepG2	liver:	n/a	n/a
42	HEY1	chr5:93903620-93903804	HepG2	liver:	n/a	n/a
43	HEY1	chr5:93903658-93903766	HepG2	liver:	n/a	n/a
44	IRF4	chr5:93904810-93905420	GM12878	blood:	n/a	n/a
45	IRF4	chr5:93904804-93905505	GM12878	blood:	n/a	n/a
46	JUND	chr5:93903635-93903764	HepG2	liver:	n/a	n/a
47	JUND	chr5:93904866-93904966	HepG2	liver:	n/a	n/a
48	JUND	chr5:93905011-93905287	HepG2	liver:	n/a	n/a
49	JUND	chr5:93905036-93905270	HepG2	liver:	n/a	n/a
50	MYBL2	chr5:93904800-93905346	HepG2	liver:	n/a	n/a

(count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93905482-93905532	HAEpiC	amniotic membrane:	n/a
2	chr5:93905427-93905477	Hela-S3	cervix:	n/a
3	chr5:93905482-93905532	HL-60	blood:	n/a
4	chr5:93905482-93905532	HAEpiC	amniotic membrane:	n/a
5	chr5:93905427-93905477	Hela-S3	cervix:	n/a
6	chr5:93905482-93905532	HL-60	blood:	n/a
7	chr5:93905257-93905307	Hela-S3	cervix:	n/a
8	chr5:93905482-93905532	NH-A	brain:	n/a
9	chr5:93904050-93904100	AG04450	lung:	fetal
10	chr5:93905427-93905477	IMR90	lung:	fetal
11	chr5:93905358-93905408	SK-N-SH	brain:	n/a
12	chr5:93905257-93905307	MCF10A-Er-Src	breast:	n/a
13	chr5:93905427-93905477	AoSMC	blood vessel:	n/a
14	chr5:93904050-93904100	SAEC	small airway:	n/a
15	chr5:93905343-93905393	NT2-D1	testis:	n/a
16	chr5:93905270-93905320	HAEpiC	amniotic membrane:	n/a
17	chr5:93905427-93905477	RPTEC	kidney:	n/a
18	chr5:93905270-93905320	HRPEpiC	eye:	n/a
19	chr5:93906411-93906461	PFSK-1	brain:	n/a
20	chr5:93905257-93905307	HIPEpiC	eye:	n/a
21	chr5:93905343-93905393	MCF10A-Er-Src	breast:	n/a
22	chr5:93905427-93905477	HL-60	blood:	n/a
23	chr5:93905358-93905408	SKMC	muscle:	n/a
24	chr5:93906411-93906461	HMEC	breast:	n/a
25	chr5:93906294-93906344	HEK293	kidney:	embryo
26	chr5:93904050-93904100	MCF10A-Er-Src	breast:	n/a
27	chr5:93905257-93905307	SK-N-SH_RA	brain:	n/a
28	chr5:93906411-93906461	ovcar-3	ovarian:	n/a
29	chr5:93904050-93904100	U87	brain:	n/a
30	chr5:93905358-93905408	K562	blood:	n/a
31	chr5:93905343-93905393	HEEpiC	esophagus:	n/a
32	chr5:93905257-93905307	HL-60	blood:	n/a
33	chr5:93905270-93905320	NHBE	bronchial:	n/a
34	chr5:93905270-93905320	HEK293	kidney:	embryo
35	chr5:93905270-93905320	HMEC	breast:	n/a
36	chr5:93905257-93905307	BJ	skin:	n/a
37	chr5:93905257-93905307	GM06990	blood:	n/a
38	chr5:93905358-93905408	GM12891	blood:	n/a
39	chr5:93906411-93906461	K562	blood:	n/a
40	chr5:93905270-93905320	SK-N-MC	brain:	n/a
41	chr5:93906294-93906344	NHBE	bronchial:	n/a
42	chr5:93905257-93905307	H1-hESC	embryonic stem cell:	embryo
43	chr5:93905257-93905307	ovcar-3	ovarian:	n/a
44	chr5:93905270-93905320	K562	blood:	n/a
45	chr5:93905257-93905307	ProgFib	skin:	n/a
46	chr5:93905358-93905408	HMEC	breast:	n/a
47	chr5:93905343-93905393	GM12878	blood:	n/a
48	chr5:93906294-93906344	BJ	skin:	n/a
49	chr5:93904050-93904100	HEK293	kidney:	embryo
50	chr5:93906294-93906344	RPTEC	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCTP1-2	chr5:93904634-93905175	NONHSAT102821

No data

Variant related genes	Relation type
MTND6P3	TF binding region
ENSG00000251340	TF binding region
MTND5P12	TF binding region
MTND6P3	CpG island
ENSG00000251340	CpG island
MTND5P12	CpG island

Extended variants
information (count: 295 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577715015	chr5:93903006-93903007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540370274	chr5:93903044-93903045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560255493	chr5:93903045-93903046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185690218	chr5:93903046-93903047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373500525	chr5:93903077-93903078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549223153	chr5:93903096-93903097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562621916	chr5:93903141-93903142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531664225	chr5:93903153-93903154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78778457	chr5:93903183-93903184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74822664	chr5:93903186-93903187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77890189	chr5:93903201-93903202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551391893	chr5:93903208-93903209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76596025	chr5:93903213-93903214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79061674	chr5:93903249-93903250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75483417	chr5:93903255-93903256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571303527	chr5:93903261-93903262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190200465	chr5:93903262-93903263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572961512	chr5:93903301-93903302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200961092	chr5:93903325-93903326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182422489	chr5:93903332-93903333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535687322	chr5:93903338-93903339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76055993	chr5:93903342-93903343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62365665	chr5:93903369-93903370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555876073	chr5:93903376-93903377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141069166	chr5:93903397-93903398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540318797	chr5:93903408-93903409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185207945	chr5:93903470-93903471	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149902026	chr5:93903473-93903474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144952242	chr5:93903495-93903496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76773638	chr5:93903508-93903509	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs77577503	chr5:93903522-93903523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs77081395	chr5:93903525-93903526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs190697992	chr5:93903541-93903542	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370770294	chr5:93903550-93903551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs115292608	chr5:93903560-93903561	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149020980	chr5:93903602-93903603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs77251466	chr5:93903644-93903645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs76070069	chr5:93903650-93903651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs74664810	chr5:93903663-93903664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372737849	chr5:93903679-93903680	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562718032	chr5:93903682-93903683	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116664234	chr5:93903689-93903690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551708725	chr5:93903697-93903698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs77346887	chr5:93903711-93903712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs113037319	chr5:93903739-93903740	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs74932738	chr5:93903750-93903751	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184241058	chr5:93903775-93903776	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114365608	chr5:93903782-93903783	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567234192	chr5:93903787-93903788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536376096	chr5:93903806-93903807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:93905400-93906000	ZNF genes & repeats	Aorta	Aorta
4	chr5:93905800-93906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr5:93906000-93913200	Weak transcription	Aorta	Aorta
6	chr5:93906600-93909000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:93907800-93912400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:93908000-93913200	Weak transcription	Spleen	Spleen
9	chr5:93908400-93908800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:93908400-93916600	Weak transcription	Ovary	ovary

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