Variant report

Variant	nsv823157
Chromosome Location	chr5:99382369-99390413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:471)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr5:99388504-99388666	GM12878	blood:	n/a	n/a
3	BATF	chr5:99389007-99389272	GM12878	blood:	n/a	n/a
4	BATF	chr5:99389500-99389704	GM12878	blood:	n/a	n/a
5	BATF	chr5:99388507-99388698	GM12878	blood:	n/a	n/a
6	BATF	chr5:99389889-99390099	GM12878	blood:	n/a	n/a
7	BATF	chr5:99389499-99389705	GM12878	blood:	n/a	n/a
8	BATF	chr5:99383113-99383549	GM12878	blood:	n/a	n/a
9	BATF	chr5:99384368-99384728	GM12878	blood:	n/a	n/a
10	BATF	chr5:99385000-99385307	GM12878	blood:	n/a	n/a
11	BATF	chr5:99384412-99384822	GM12878	blood:	n/a	n/a
12	BATF	chr5:99383118-99383547	GM12878	blood:	n/a	n/a
13	BATF	chr5:99388145-99388297	GM12878	blood:	n/a	n/a
14	BATF	chr5:99382104-99382381	GM12878	blood:	n/a	n/a
15	BATF	chr5:99385890-99386051	GM12878	blood:	n/a	n/a
16	BATF	chr5:99387907-99388092	GM12878	blood:	n/a	n/a
17	BATF	chr5:99384985-99385295	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:99384943-99385335	GM12878	blood:	n/a	n/a
19	BCL11A	chr5:99387897-99388305	GM12878	blood:	n/a	n/a
20	BCL11A	chr5:99388493-99388759	GM12878	blood:	n/a	n/a
21	BCL11A	chr5:99383124-99383473	GM12878	blood:	n/a	n/a
22	BCL11A	chr5:99388377-99388810	GM12878	blood:	n/a	n/a
23	BCL11A	chr5:99388153-99388292	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:99383178-99383545	H1-hESC	embryonic stem cell:	n/a	n/a
25	BCL11A	chr5:99385767-99386189	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:99385899-99386040	GM12878	blood:	n/a	n/a
27	BCL11A	chr5:99384966-99385376	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:99389955-99390140	GM12878	blood:	n/a	n/a
29	BCL11A	chr5:99389488-99389768	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:99389507-99389698	GM12878	blood:	n/a	n/a
31	BCL11A	chr5:99383106-99383811	GM12878	blood:	n/a	n/a
32	BCL11A	chr5:99388998-99389358	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:99387915-99388066	GM12878	blood:	n/a	n/a
34	BCL11A	chr5:99384271-99384770	GM12878	blood:	n/a	n/a
35	BCL11A	chr5:99384419-99384722	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
37	BHLHE40	chr5:99381766-99382378	HepG2	liver:	n/a	n/a
38	BHLHE40	chr5:99384917-99385380	HepG2	liver:	n/a	n/a
39	BHLHE40	chr5:99390309-99390484	HepG2	liver:	n/a	n/a
40	BHLHE40	chr5:99389935-99390255	HepG2	liver:	n/a	n/a
41	BHLHE40	chr5:99382742-99383814	HepG2	liver:	n/a	n/a
42	BHLHE40	chr5:99387743-99388449	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:99389491-99389718	HepG2	liver:	n/a	n/a
44	BHLHE40	chr5:99384277-99384855	HepG2	liver:	n/a	n/a
45	BHLHE40	chr5:99388491-99388776	HepG2	liver:	n/a	n/a
46	BHLHE40	chr5:99388899-99389375	HepG2	liver:	n/a	n/a
47	BHLHE40	chr5:99385878-99386179	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:99387457-99387678	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:99385632-99385808	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:99386887-99387195	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	chr5:99388688-99388738	MCF-7	breast:	n/a
2	chr5:99388688-99388738	NH-A	brain:	n/a
3	chr5:99389821-99389871	NHDF-neo	bronchial:	n/a
4	chr5:99388688-99388738	HUVEC	blood vessel:	n/a
5	chr5:99389821-99389871	SK-N-SH	brain:	n/a
6	chr5:99388688-99388738	T-47D	breast:	n/a
7	chr5:99388688-99388738	NT2-D1	testis:	n/a
8	chr5:99389821-99389871	HRPEpiC	eye:	n/a
9	chr5:99388688-99388738	AG09319	gingival:	n/a
10	chr5:99388688-99388738	AG09309	skin:	n/a
11	chr5:99389821-99389871	SKMC	muscle:	n/a
12	chr5:99388688-99388738	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:99389821-99389871	Hepatocyte	liver:	n/a
14	chr5:99389821-99389871	SK-N-SH_RA	brain:	n/a
15	chr5:99388688-99388738	BJ	skin:	n/a
16	chr5:99389821-99389871	NH-A	brain:	n/a
17	chr5:99388688-99388738	ovcar-3	ovarian:	n/a
18	chr5:99389821-99389871	GM12892	blood:	n/a
19	chr5:99388688-99388738	AoSMC	blood vessel:	n/a
20	chr5:99389821-99389871	HRCEpiC	kidney:	n/a
21	chr5:99388688-99388738	HL-60	blood:	n/a
22	chr5:99389821-99389871	Caco-2	colon:	n/a
23	chr5:99388688-99388738	SK-N-SH_RA	brain:	n/a
24	chr5:99389821-99389871	HRE	kidney:	n/a
25	chr5:99389821-99389871	T-47D	breast:	n/a
26	chr5:99388688-99388738	Jurkat	blood:	n/a
27	chr5:99388688-99388738	GM19239	blood:	n/a
28	chr5:99388688-99388738	A549	lung:	n/a
29	chr5:99388688-99388738	ECC-1	luminal epithelium:	n/a
30	chr5:99388688-99388738	HRE	kidney:	n/a
31	chr5:99389821-99389871	AG04449	skin:	fetal
32	chr5:99389821-99389871	LNCaP	prostate:	n/a
33	chr5:99388688-99388738	U87	brain:	n/a
34	chr5:99388688-99388738	Hela-S3	cervix:	n/a
35	chr5:99389821-99389871	GM06990	blood:	n/a
36	chr5:99388688-99388738	ProgFib	skin:	n/a
37	chr5:99389821-99389871	CMK	blood:	n/a
38	chr5:99388688-99388738	HEK293	kidney:	embryo
39	chr5:99388688-99388738	Hepatocyte	liver:	n/a
40	chr5:99389821-99389871	AG10803	skin:	n/a
41	chr5:99389821-99389871	NB4	blood:	n/a
42	chr5:99389821-99389871	PrEC	prostate:	n/a
43	chr5:99389821-99389871	BE2_C	brain:	n/a
44	chr5:99388688-99388738	HCPEpiC	choroid plexus:	n/a
45	chr5:99388688-99388738	HAEpiC	amniotic membrane:	n/a
46	chr5:99389821-99389871	HCF	heart:	n/a
47	chr5:99388688-99388738	HEEpiC	esophagus:	n/a
48	chr5:99389821-99389871	GM12891	blood:	n/a
49	chr5:99388688-99388738	NB4	blood:	n/a
50	chr5:99388688-99388738	AG10803	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
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
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

Extended variants
information (count: 520 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369728940	chr5:99382386-99382387	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs112828018	chr5:99382408-99382409	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs553104859	chr5:99382414-99382415	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs79168116	chr5:99382422-99382423	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs75898777	chr5:99382428-99382429	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs577926629	chr5:99382442-99382443	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs182396216	chr5:99382443-99382444	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs557230297	chr5:99382449-99382450	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs79202007	chr5:99382455-99382456	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs75218894	chr5:99382458-99382459	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs575224652	chr5:99382460-99382461	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs78409167	chr5:99382462-99382463	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs74432938	chr5:99382464-99382465	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs542222967	chr5:99382465-99382466	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs535982929	chr5:99382540-99382541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs185722707	chr5:99382543-99382544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs75408911	chr5:99382546-99382547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs78069955	chr5:99382557-99382558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs572801002	chr5:99382558-99382559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540434548	chr5:99382559-99382560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs77041689	chr5:99382563-99382564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs78115036	chr5:99382578-99382579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs74355863	chr5:99382608-99382609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs79682177	chr5:99382611-99382612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs76463703	chr5:99382629-99382630	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs77660156	chr5:99382644-99382645	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs545249334	chr5:99382649-99382650	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs143721925	chr5:99382664-99382665	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs550921228	chr5:99382666-99382667	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs79536624	chr5:99382671-99382672	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs78753695	chr5:99382677-99382678	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs562623859	chr5:99382685-99382686	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs140247946	chr5:99382703-99382704	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs560461170	chr5:99382722-99382723	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs549081597	chr5:99382724-99382725	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs190187593	chr5:99382734-99382735	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs77533559	chr5:99382745-99382746	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs181633963	chr5:99382823-99382824	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs542578723	chr5:99382826-99382827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs77466095	chr5:99382866-99382867	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs574283186	chr5:99382872-99382873	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs561288526	chr5:99382883-99382884	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs557268733	chr5:99382936-99382937	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs79170165	chr5:99382947-99382948	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs76704904	chr5:99382957-99382958	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs74580604	chr5:99382993-99382994	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs72769548	chr5:99383007-99383008	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536245107	chr5:99383017-99383018	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs554224411	chr5:99383035-99383036	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs149913954	chr5:99383037-99383038	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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