Variant report

Variant	nsv968283
Chromosome Location	chr5:177434667-177466502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:177439336-177439525	Hela-S3	cervix:	n/a	chr5:177439419-177439432
2	CTCF	chr5:177439146-177439228	GM10248	blood:	n/a	n/a
3	CTCF	chr5:177437476-177437538	GM10248	blood:	n/a	n/a
4	CTCF	chr5:177458006-177458057	HepG2	liver:	n/a	n/a
5	CTCF	chr5:177441118-177441159	GM10248	blood:	n/a	n/a
6	FOSL2	chr5:177464777-177465014	HepG2	liver:	n/a	n/a
7	FOXA1	chr5:177464590-177465176	HepG2	liver:	n/a	n/a
8	FOXA2	chr5:177456202-177456610	A549	lung:	n/a	n/a
9	GABPA	chr5:177441849-177442070	Hela-S3	cervix:	n/a	n/a
10	GATA2	chr5:177449360-177449778	K562	blood:	n/a	n/a
11	JUND	chr5:177464859-177465009	HepG2	liver:	n/a	n/a
12	MAFF	chr5:177444323-177444503	HepG2	liver:	n/a	n/a
13	MAFK	chr5:177444303-177444519	HepG2	liver:	n/a	chr5:177444346-177444357 chr5:177444346-177444362 chr5:177444346-177444357 chr5:177444345-177444359 chr5:177444347-177444358
14	MAFK	chr5:177444330-177444332	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr5:177444307-177444499	IMR90	lung:	n/a	chr5:177444346-177444357 chr5:177444346-177444362 chr5:177444346-177444357 chr5:177444345-177444359 chr5:177444347-177444358
16	PBX3	chr5:177437425-177437624	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:177441834-177442001	A549	lung:	n/a	n/a
18	POLR2A	chr5:177447332-177447478	Gliobla	brain:	n/a	n/a
19	POLR2A	chr5:177441854-177441864	Gliobla	brain:	n/a	n/a
20	POLR2A	chr5:177448149-177448187	Gliobla	brain:	n/a	n/a
21	POLR2A	chr5:177441874-177442022	Gliobla	brain:	n/a	n/a
22	PRDM1	chr5:177439325-177439618	Hela-S3	cervix:	n/a	chr5:177439459-177439474 chr5:177439464-177439473 chr5:177439381-177439390
23	RXRA	chr5:177465457-177465696	HepG2	liver:	n/a	n/a
24	RXRA	chr5:177464683-177465065	HepG2	liver:	n/a	n/a
25	SP1	chr5:177464596-177465188	HepG2	liver:	n/a	n/a
26	SPI1	chr5:177449603-177449755	K562	blood:	n/a	n/a
27	TCF12	chr5:177446464-177446842	GM12878	blood:	n/a	chr5:177446502-177446509
28	TCF3	chr5:177446430-177446891	GM12878	blood:	n/a	chr5:177446568-177446582
29	USF1	chr5:177447251-177447414	HepG2	liver:	n/a	chr5:177447346-177447357
30	USF1	chr5:177463623-177463780	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177436178-177436228	PFSK-1	brain:	n/a
2	chr5:177436178-177436228	HCT-116	colon:	n/a
3	chr5:177436178-177436228	GM12891	blood:	n/a
4	chr5:177436178-177436228	A549	lung:	n/a
5	chr5:177436178-177436228	HNPCEpiC	eye:	n/a
6	chr5:177436178-177436228	AoSMC	blood vessel:	n/a
7	chr5:177436178-177436228	HIPEpiC	eye:	n/a
8	chr5:177436178-177436228	AG09319	gingival:	n/a
9	chr5:177436178-177436228	GM19239	blood:	n/a
10	chr5:177436178-177436228	SK-N-SH	brain:	n/a
11	chr5:177436178-177436228	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:177436178-177436228	SKMC	muscle:	n/a
13	chr5:177436178-177436228	AG10803	skin:	n/a
14	chr5:177436178-177436228	RPTEC	kidney:	n/a
15	chr5:177436178-177436228	MCF-7	breast:	n/a
16	chr5:177436178-177436228	HRE	kidney:	n/a
17	chr5:177436178-177436228	HMEC	breast:	n/a
18	chr5:177436178-177436228	NH-A	brain:	n/a
19	chr5:177436178-177436228	ECC-1	luminal epithelium:	n/a
20	chr5:177436178-177436228	HEK293	kidney:	embryo
21	chr5:177436178-177436228	MCF10A-Er-Src	breast:	n/a
22	chr5:177436178-177436228	HRCEpiC	kidney:	n/a
23	chr5:177436178-177436228	NB4	blood:	n/a
24	chr5:177436178-177436228	K562	blood:	n/a
25	chr5:177436178-177436228	SK-N-MC	brain:	n/a
26	chr5:177436178-177436228	NHDF-neo	bronchial:	n/a
27	chr5:177436178-177436228	BE2_C	brain:	n/a
28	chr5:177436178-177436228	Caco-2	colon:	n/a
29	chr5:177436178-177436228	HAEpiC	amniotic membrane:	n/a
30	chr5:177436178-177436228	GM12878	blood:	n/a
31	chr5:177436178-177436228	HEEpiC	esophagus:	n/a
32	chr5:177436178-177436228	HL-60	blood:	n/a
33	chr5:177436178-177436228	GM12892	blood:	n/a
34	chr5:177436178-177436228	Hepatocyte	liver:	n/a
35	chr5:177436178-177436228	Hela-S3	cervix:	n/a
36	chr5:177436178-177436228	AG04449	skin:	fetal
37	chr5:177436178-177436228	IMR90	lung:	fetal
38	chr5:177436178-177436228	HCF	heart:	n/a
39	chr5:177436178-177436228	PrEC	prostate:	n/a
40	chr5:177436178-177436228	T-47D	breast:	n/a
41	chr5:177436178-177436228	LNCaP	prostate:	n/a
42	chr5:177436178-177436228	H1-hESC	embryonic stem cell:	embryo
43	chr5:177436178-177436228	HUVEC	blood vessel:	n/a
44	chr5:177436178-177436228	BJ	skin:	n/a
45	chr5:177436178-177436228	Jurkat	blood:	n/a
46	chr5:177436178-177436228	HCPEpiC	choroid plexus:	n/a
47	chr5:177436178-177436228	ProgFib	skin:	n/a
48	chr5:177436178-177436228	SAEC	small airway:	n/a
49	chr5:177436178-177436228	GM06990	blood:	n/a
50	chr5:177436178-177436228	HRPEpiC	eye:	n/a

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM153C-1	chr5:177437114-177437330	NONHSAT105500
2	lnc-FAM153C-1	chr5:177436327-177436382	NONHSAT105499
3	lnc-FAM153C-1	chr5:177435154-177435253	NONHSAT105500
4	lnc-FAM153C-1	chr5:177462097-177462155	NR_038353
5	lnc-FAM153C-1	chr5:177436327-177436382	NR_038353
6	lnc-FAM153C-1	chr5:177436327-177436382	NONHSAT105500
7	lnc-FAM153C-1	chr5:177463013-177463037	NR_038353
8	lnc-PROP1-1	chr5:177446441-177446907	ENSG00000255684
9	lnc-FAM153C-1	chr5:177465839-177465918	NR_038353
10	lnc-FAM153C-1	chr5:177466388-177466412	NR_038353
11	lnc-FAM153C-1	chr5:177437114-177437275	NONHSAT105499

No data

Variant related genes	Relation type
FAM153C	TF binding region
FAM153C	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201647677	chr5:177436331-177436332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562121004	chr5:177436364-177436365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199948960	chr5:177437118-177437119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201300224	chr5:177437120-177437121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569266895	chr5:177437162-177437163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs199871773	chr5:177437205-177437206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537873981	chr5:177446441-177446442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189744875	chr5:177446583-177446584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566675246	chr5:177446880-177446881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs541290690	chr5:177456241-177456242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs113879632	chr5:177456250-177456251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559969248	chr5:177456262-177456263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149014121	chr5:177456276-177456277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs114012146	chr5:177456317-177456318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563922977	chr5:177456345-177456346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530526878	chr5:177456363-177456364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569787213	chr5:177456367-177456368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548926512	chr5:177456393-177456394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371803544	chr5:177456415-177456416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12186807	chr5:177456433-177456434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs10057388	chr5:177456437-177456438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528175760	chr5:177456522-177456523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113429342	chr5:177456527-177456528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs546520231	chr5:177456594-177456595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571109434	chr5:177456596-177456597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191906057	chr5:177456602-177456603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10057514	chr5:177456605-177456606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs552458436	chr5:177462139-177462140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs200636435	chr5:177465914-177465915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs201340716	chr5:177466409-177466410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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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