Variant report

Variant	nsv823155
Chromosome Location	chr5:99380988-99391856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:527)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:99384887-99385260	K562	blood:	n/a	n/a
2	BATF	chr5:99385000-99385307	GM12878	blood:	n/a	n/a
3	BATF	chr5:99388507-99388698	GM12878	blood:	n/a	n/a
4	BATF	chr5:99389499-99389705	GM12878	blood:	n/a	n/a
5	BATF	chr5:99383113-99383549	GM12878	blood:	n/a	n/a
6	BATF	chr5:99387907-99388092	GM12878	blood:	n/a	n/a
7	BATF	chr5:99382105-99382281	GM12878	blood:	n/a	n/a
8	BATF	chr5:99383118-99383547	GM12878	blood:	n/a	n/a
9	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
10	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
11	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
12	BATF	chr5:99389500-99389704	GM12878	blood:	n/a	n/a
13	BATF	chr5:99389889-99390099	GM12878	blood:	n/a	n/a
14	BATF	chr5:99382104-99382381	GM12878	blood:	n/a	n/a
15	BATF	chr5:99384985-99385295	GM12878	blood:	n/a	n/a
16	BATF	chr5:99388145-99388297	GM12878	blood:	n/a	n/a
17	BATF	chr5:99388504-99388666	GM12878	blood:	n/a	n/a
18	BATF	chr5:99389007-99389272	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:99388998-99389358	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:99389955-99390140	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:99388153-99388292	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:99389488-99389768	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:99384943-99385335	GM12878	blood:	n/a	n/a
25	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:99387897-99388305	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:99383106-99383811	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:99383178-99383545	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL11A	chr5:99382065-99382284	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:99388493-99388759	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:99383124-99383473	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:99388377-99388810	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:99389507-99389698	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:99387915-99388066	GM12878	blood:	n/a	n/a
39	BHLHE40	chr5:99385878-99386179	HepG2	liver:	n/a	n/a
40	BHLHE40	chr5:99384277-99384855	HepG2	liver:	n/a	n/a
41	BHLHE40	chr5:99387743-99388449	HepG2	liver:	n/a	n/a
42	BHLHE40	chr5:99382742-99383814	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:99389935-99390255	HepG2	liver:	n/a	n/a
44	BHLHE40	chr5:99389491-99389718	HepG2	liver:	n/a	n/a
45	BHLHE40	chr5:99390309-99390484	HepG2	liver:	n/a	n/a
46	BHLHE40	chr5:99384917-99385380	HepG2	liver:	n/a	n/a
47	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:99388491-99388776	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:99388899-99389375	HepG2	liver:	n/a	n/a
50	BHLHE40	chr5:99385632-99385808	HepG2	liver:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99388688-99388738	A549	lung:	n/a
2	chr5:99382140-99382190	AG04450	lung:	fetal
3	chr5:99382140-99382190	RPTEC	kidney:	n/a
4	chr5:99389821-99389871	HMEC	breast:	n/a
5	chr5:99388688-99388738	MCF10A-Er-Src	breast:	n/a
6	chr5:99382144-99382194	HRPEpiC	eye:	n/a
7	chr5:99388688-99388738	Caco-2	colon:	n/a
8	chr5:99388688-99388738	BE2_C	brain:	n/a
9	chr5:99382140-99382190	AoSMC	blood vessel:	n/a
10	chr5:99381840-99381890	GM06990	blood:	n/a
11	chr5:99382140-99382190	PFSK-1	brain:	n/a
12	chr5:99382140-99382190	SK-N-SH	brain:	n/a
13	chr5:99388688-99388738	PrEC	prostate:	n/a
14	chr5:99382140-99382190	SKMC	muscle:	n/a
15	chr5:99381840-99381890	HNPCEpiC	eye:	n/a
16	chr5:99381964-99382014	HCT-116	colon:	n/a
17	chr5:99381964-99382014	NB4	blood:	n/a
18	chr5:99382144-99382194	NHDF-neo	bronchial:	n/a
19	chr5:99381840-99381890	BE2_C	brain:	n/a
20	chr5:99382140-99382190	HUVEC	blood vessel:	n/a
21	chr5:99389821-99389871	HRPEpiC	eye:	n/a
22	chr5:99381964-99382014	Jurkat	blood:	n/a
23	chr5:99381840-99381890	SKMC	muscle:	n/a
24	chr5:99388688-99388738	AG04450	lung:	fetal
25	chr5:99382144-99382194	A549	lung:	n/a
26	chr5:99389821-99389871	ProgFib	skin:	n/a
27	chr5:99382144-99382194	SK-N-SH	brain:	n/a
28	chr5:99388688-99388738	HUVEC	blood vessel:	n/a
29	chr5:99381964-99382014	NHBE	bronchial:	n/a
30	chr5:99389821-99389871	HRE	kidney:	n/a
31	chr5:99381964-99382014	PANC-1	pancreas:	n/a
32	chr5:99382144-99382194	Hepatocyte	liver:	n/a
33	chr5:99382144-99382194	AG09309	skin:	n/a
34	chr5:99381840-99381890	HRPEpiC	eye:	n/a
35	chr5:99382144-99382194	HRE	kidney:	n/a
36	chr5:99382144-99382194	GM12878	blood:	n/a
37	chr5:99381964-99382014	HRE	kidney:	n/a
38	chr5:99389821-99389871	PANC-1	pancreas:	n/a
39	chr5:99388688-99388738	SK-N-SH	brain:	n/a
40	chr5:99388688-99388738	PANC-1	pancreas:	n/a
41	chr5:99388688-99388738	HEEpiC	esophagus:	n/a
42	chr5:99382140-99382190	GM12878	blood:	n/a
43	chr5:99388688-99388738	GM12891	blood:	n/a
44	chr5:99381840-99381890	H1-hESC	embryonic stem cell:	embryo
45	chr5:99382140-99382190	HEEpiC	esophagus:	n/a
46	chr5:99388688-99388738	ProgFib	skin:	n/a
47	chr5:99382144-99382194	U87	brain:	n/a
48	chr5:99381840-99381890	NHDF-neo	bronchial:	n/a
49	chr5:99381964-99382014	LNCaP	prostate:	n/a
50	chr5:99381964-99382014	BJ	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-10	chr5:99386063-99386354	NONHSAT102989
2	lnc-FAM174A-4	chr5:99382154-99382674	NONHSAT102986

No data

Variant related genes	Relation type
ENSG00000270230	TF binding region
ENSG00000271480	TF binding region
ENSG00000270225	TF binding region
ENSG00000270350	TF binding region
ENSG00000270388	TF binding region
ENSG00000264839	TF binding region
MTATP6P2	TF binding region
MTND5P10	TF binding region
ENSG00000270232	TF binding region
ENSG00000270906	TF binding region
ENSG00000271207	TF binding region
ENSG00000270230	CpG island
ENSG00000271480	CpG island
ENSG00000270225	CpG island
ENSG00000270350	CpG island
ENSG00000270388	CpG island
ENSG00000264839	CpG island
MTATP6P2	CpG island
MTND5P10	CpG island
ENSG00000270232	CpG island
ENSG00000270906	CpG island
ENSG00000271207	CpG island

Extended variants
information (count: 611 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78964702	chr5:99381734-99381735	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs80218615	chr5:99381735-99381736	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs77472495	chr5:99381750-99381751	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs74757272	chr5:99381751-99381752	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs112879241	chr5:99381764-99381765	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs113538622	chr5:99381767-99381768	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs191793062	chr5:99381780-99381781	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs74653206	chr5:99381782-99381783	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs563065482	chr5:99381785-99381786	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs530475925	chr5:99381791-99381792	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs75196593	chr5:99381806-99381807	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs548916872	chr5:99381818-99381819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs184333318	chr5:99381819-99381820	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs188245923	chr5:99381821-99381822	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs180988190	chr5:99381824-99381825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs184820583	chr5:99381827-99381828	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs190712378	chr5:99381830-99381831	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs181513208	chr5:99381833-99381834	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs142392389	chr5:99381837-99381838	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs571530826	chr5:99381840-99381841	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs186990880	chr5:99381845-99381846	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
22	rs191786099	chr5:99381848-99381849	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
23	rs181173148	chr5:99381857-99381858	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs185611469	chr5:99381860-99381861	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs376546229	chr5:99381866-99381867	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs368262784	chr5:99381869-99381870	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs558133729	chr5:99381881-99381882	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs372248951	chr5:99381884-99381885	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs375277753	chr5:99381885-99381886	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs369827693	chr5:99381890-99381891	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
31	rs372644727	chr5:99381896-99381897	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs547959396	chr5:99381898-99381899	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs374885688	chr5:99381902-99381903	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs570172291	chr5:99381904-99381905	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs369522616	chr5:99381920-99381921	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs189633964	chr5:99381941-99381942	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs77677807	chr5:99381942-99381943	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs74877686	chr5:99381956-99381957	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs139209822	chr5:99381964-99381965	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
40	rs574204349	chr5:99381965-99381966	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs372768127	chr5:99381971-99381972	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs377353997	chr5:99381973-99381974	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
43	rs370662786	chr5:99381986-99381987	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
44	rs374144205	chr5:99381994-99381995	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
45	rs377761132	chr5:99382001-99382002	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
46	rs73774551	chr5:99382006-99382007	Inactive region	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2887754	chr5:99382010-99382011	Inactive region	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371218860	chr5:99382016-99382017	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs374960740	chr5:99382022-99382023	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs367606652	chr5:99382025-99382026	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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