Variant report

Variant	nsv508389
Chromosome Location	chr5:177177787-177207975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:177198402-177198415	K562	blood:	n/a	n/a
2	CEBPB	chr5:177198236-177198491	A549	lung:	n/a	chr5:177198345-177198358
3	CEBPB	chr5:177198235-177198496	IMR90	lung:	n/a	chr5:177198345-177198358
4	CTCF	chr5:177180252-177180320	GM13977	blood:	n/a	n/a
5	CTCF	chr5:177197744-177197783	GM20000	blood:	n/a	n/a
6	CTCF	chr5:177188721-177188794	Medullo	brain:	n/a	n/a
7	CTCF	chr5:177188409-177188510	GM10248	blood:	n/a	n/a
8	CTCF	chr5:177194765-177194796	GM10266	blood:	n/a	n/a
9	CTCF	chr5:177192000-177192050	Medullo	brain:	n/a	n/a
10	CTCF	chr5:177189950-177190021	GM10266	blood:	n/a	n/a
11	EGR1	chr5:177187970-177188216	K562	blood:	n/a	chr5:177188157-177188172
12	EGR1	chr5:177187958-177188290	K562	blood:	n/a	chr5:177188157-177188172
13	EP300	chr5:177188129-177188191	K562	blood:	n/a	n/a
14	FOS	chr5:177196909-177197109	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
15	FOS	chr5:177196913-177197098	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
16	FOS	chr5:177196902-177197097	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
17	FOXA1	chr5:177181143-177181385	HepG2	liver:	n/a	n/a
18	FOXA2	chr5:177199587-177199915	A549	lung:	n/a	n/a
19	FOXA2	chr5:177190654-177191169	A549	lung:	n/a	n/a
20	FOXA2	chr5:177199382-177200086	A549	lung:	n/a	n/a
21	GABPA	chr5:177196610-177196826	Hela-S3	cervix:	n/a	n/a
22	GATA2	chr5:177187958-177188349	K562	blood:	n/a	n/a
23	MAFK	chr5:177193333-177193533	IMR90	lung:	n/a	chr5:177193415-177193426 chr5:177193410-177193426 chr5:177193413-177193427 chr5:177193414-177193425 chr5:177193415-177193426
24	PBX3	chr5:177206184-177206372	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:177195645-177195881	A549	lung:	n/a	n/a
26	POLR2A	chr5:177188061-177188295	K562	blood:	n/a	n/a
27	POLR2A	chr5:177195840-177195846	Gliobla	brain:	n/a	n/a
28	POLR2A	chr5:177188063-177188291	K562	blood:	n/a	n/a
29	POLR2A	chr5:177195744-177195838	Gliobla	brain:	n/a	n/a
30	POLR2A	chr5:177180949-177181073	A549	lung:	n/a	n/a
31	POLR2A	chr5:177191548-177191638	Gliobla	brain:	n/a	n/a
32	SPI1	chr5:177187943-177188107	K562	blood:	n/a	n/a
33	TAL1	chr5:177188134-177188338	K562	blood:	n/a	n/a
34	TCF12	chr5:177190895-177191231	GM12878	blood:	n/a	n/a
35	TCF3	chr5:177190846-177191334	GM12878	blood:	n/a	chr5:177191190-177191204
36	TEAD4	chr5:177187949-177188312	K562	blood:	n/a	n/a
37	TEAD4	chr5:177188030-177188241	K562	blood:	n/a	n/a
38	USF1	chr5:177190323-177190486	HepG2	liver:	n/a	chr5:177190414-177190425

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177196865-177196915	HEEpiC	esophagus:	n/a
2	chr5:177196865-177196915	IMR90	lung:	fetal
3	chr5:177196865-177196915	CMK	blood:	n/a
4	chr5:177196865-177196915	HAEpiC	amniotic membrane:	n/a
5	chr5:177196865-177196915	AoSMC	blood vessel:	n/a
6	chr5:177196865-177196915	K562	blood:	n/a
7	chr5:177196865-177196915	PFSK-1	brain:	n/a
8	chr5:177196865-177196915	NHDF-neo	bronchial:	n/a
9	chr5:177196865-177196915	HCF	heart:	n/a
10	chr5:177196865-177196915	PrEC	prostate:	n/a
11	chr5:177196865-177196915	AG09309	skin:	n/a
12	chr5:177196865-177196915	Hela-S3	cervix:	n/a
13	chr5:177196865-177196915	ECC-1	luminal epithelium:	n/a
14	chr5:177196865-177196915	NT2-D1	testis:	n/a
15	chr5:177196865-177196915	AG04449	skin:	fetal
16	chr5:177196865-177196915	U87	brain:	n/a
17	chr5:177196865-177196915	H1-hESC	embryonic stem cell:	embryo
18	chr5:177196865-177196915	SAEC	small airway:	n/a
19	chr5:177196865-177196915	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:177196865-177196915	A549	lung:	n/a
21	chr5:177196865-177196915	Caco-2	colon:	n/a
22	chr5:177196865-177196915	HepG2	liver:	n/a
23	chr5:177196865-177196915	HRPEpiC	eye:	n/a
24	chr5:177196865-177196915	GM06990	blood:	n/a
25	chr5:177196865-177196915	Jurkat	blood:	n/a
26	chr5:177196865-177196915	NB4	blood:	n/a
27	chr5:177196865-177196915	HCM	heart:	n/a
28	chr5:177196865-177196915	GM12878	blood:	n/a
29	chr5:177196865-177196915	HCPEpiC	choroid plexus:	n/a
30	chr5:177196865-177196915	Hepatocyte	liver:	n/a
31	chr5:177196865-177196915	T-47D	breast:	n/a
32	chr5:177196865-177196915	AG04450	lung:	fetal
33	chr5:177196865-177196915	HNPCEpiC	eye:	n/a
34	chr5:177196865-177196915	ProgFib	skin:	n/a
35	chr5:177196865-177196915	NH-A	brain:	n/a
36	chr5:177196865-177196915	RPTEC	kidney:	n/a
37	chr5:177196865-177196915	GM12891	blood:	n/a
38	chr5:177196865-177196915	SKMC	muscle:	n/a
39	chr5:177196865-177196915	HL-60	blood:	n/a
40	chr5:177196865-177196915	NHBE	bronchial:	n/a
41	chr5:177196865-177196915	PANC-1	pancreas:	n/a
42	chr5:177196865-177196915	MCF10A-Er-Src	breast:	n/a
43	chr5:177196865-177196915	LNCaP	prostate:	n/a
44	chr5:177196865-177196915	GM19239	blood:	n/a
45	chr5:177196865-177196915	GM12892	blood:	n/a
46	chr5:177196865-177196915	BE2_C	brain:	n/a
47	chr5:177196865-177196915	AG09319	gingival:	n/a
48	chr5:177196865-177196915	AG10803	skin:	n/a
49	chr5:177196865-177196915	SK-N-MC	brain:	n/a
50	chr5:177196865-177196915	SK-N-SH_RA	brain:	n/a

No data

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-7	chr5:177206498-177206718	NONHSAT105467
2	lnc-FAM193B-6	chr5:177180177-177180264	NONHSAT105464
3	lnc-FAM193B-7	chr5:177189930-177190511	NONHSAT105465
4	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105465
5	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105468
6	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105467
7	lnc-FAM193B-6	chr5:177177960-177178053	NONHSAT105464
8	lnc-FAM193B-7	chr5:177206557-177206718	NONHSAT105468

No data

Variant related genes	Relation type
FAM153A	TF binding region
ENSG00000249109	TF binding region
FAM153A	CpG island
ENSG00000249109	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7446035	chr5:177178042-177178043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs200999109	chr5:177180181-177180182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs201499046	chr5:177180197-177180198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558178335	chr5:177180200-177180201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576612446	chr5:177180218-177180219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs140590079	chr5:177180222-177180223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs555696831	chr5:177180223-177180224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs574147541	chr5:177180233-177180234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs62398555	chr5:177180236-177180237	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs371136382	chr5:177180258-177180259	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs560029233	chr5:177180269-177180270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533437062	chr5:177180280-177180281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7735142	chr5:177180958-177180959	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530399397	chr5:177180979-177180980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs542239509	chr5:177181002-177181003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561076286	chr5:177181004-177181005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191851096	chr5:177181008-177181009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11249686	chr5:177181014-177181015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs112597806	chr5:177181045-177181046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs111370678	chr5:177181072-177181073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550864279	chr5:177181147-177181148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569149776	chr5:177181148-177181149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537486284	chr5:177181187-177181188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549098149	chr5:177181200-177181201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567795411	chr5:177181205-177181206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189483022	chr5:177181206-177181207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201568423	chr5:177181215-177181216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62398556	chr5:177181217-177181218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62398557	chr5:177181228-177181229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs181921281	chr5:177181231-177181232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187659795	chr5:177181232-177181233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs62398558	chr5:177181235-177181236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557261020	chr5:177181279-177181280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs575518501	chr5:177181317-177181318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs58736697	chr5:177181364-177181365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs560672714	chr5:177181365-177181366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531949511	chr5:177188031-177188032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146300120	chr5:177188040-177188041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562218699	chr5:177188045-177188046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528901598	chr5:177188069-177188070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150050666	chr5:177188090-177188091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546949942	chr5:177188098-177188099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62399963	chr5:177188132-177188133	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs62399964	chr5:177188139-177188140	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs368337628	chr5:177188217-177188218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569500107	chr5:177188279-177188280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536973681	chr5:177188343-177188344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555654955	chr5:177188349-177188350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567413251	chr5:177188383-177188384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535849933	chr5:177188388-177188389	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Autism	20841430	CNVD
Developmental delay	21147756	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177188000-177188400	Enhancers	K562	blood
2	chr5:177190800-177191800	Enhancers	Fetal Muscle Leg	muscle

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