Variant report

Variant	nsv964982
Chromosome Location	chr5:177171341-177210315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:177209565-177209833	K562	blood:	n/a	n/a
2	CBX3	chr5:177209512-177209875	K562	blood:	n/a	n/a
3	CEBPB	chr5:177198235-177198496	IMR90	lung:	n/a	chr5:177198345-177198358
4	CEBPB	chr5:177198402-177198415	K562	blood:	n/a	n/a
5	CEBPB	chr5:177198236-177198491	A549	lung:	n/a	chr5:177198345-177198358
6	CTCF	chr5:177208101-177208143	GM13976	blood:	n/a	n/a
7	CTCF	chr5:177194765-177194796	GM10266	blood:	n/a	n/a
8	CTCF	chr5:177188409-177188510	GM10248	blood:	n/a	n/a
9	CTCF	chr5:177210068-177210100	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr5:177180252-177180320	GM13977	blood:	n/a	n/a
11	CTCF	chr5:177175647-177175650	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr5:177189950-177190021	GM10266	blood:	n/a	n/a
13	CTCF	chr5:177171987-177172049	GM20000	blood:	n/a	n/a
14	CTCF	chr5:177197744-177197783	GM20000	blood:	n/a	n/a
15	CTCF	chr5:177188721-177188794	Medullo	brain:	n/a	n/a
16	CTCF	chr5:177192000-177192050	Medullo	brain:	n/a	n/a
17	CTCF	chr5:177175671-177175804	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr5:177209214-177209253	Lung_OC	lung:	n/a	n/a
19	EBF1	chr5:177209877-177210244	GM12878	blood:	n/a	n/a
20	EGR1	chr5:177187958-177188290	K562	blood:	n/a	chr5:177188157-177188172
21	EGR1	chr5:177187970-177188216	K562	blood:	n/a	chr5:177188157-177188172
22	EP300	chr5:177188129-177188191	K562	blood:	n/a	n/a
23	FOS	chr5:177196913-177197098	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
24	FOS	chr5:177196902-177197097	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
25	FOS	chr5:177196909-177197109	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
26	FOSL2	chr5:177172671-177173093	HepG2	liver:	n/a	n/a
27	FOSL2	chr5:177172725-177173096	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:177172542-177173214	HepG2	liver:	n/a	n/a
29	FOXA1	chr5:177181143-177181385	HepG2	liver:	n/a	n/a
30	FOXA2	chr5:177190654-177191169	A549	lung:	n/a	n/a
31	FOXA2	chr5:177199587-177199915	A549	lung:	n/a	n/a
32	FOXA2	chr5:177199382-177200086	A549	lung:	n/a	n/a
33	GABPA	chr5:177196610-177196826	Hela-S3	cervix:	n/a	n/a
34	GATA2	chr5:177187958-177188349	K562	blood:	n/a	n/a
35	JUND	chr5:177172732-177173093	HepG2	liver:	n/a	n/a
36	JUND	chr5:177172739-177172944	HepG2	liver:	n/a	n/a
37	MAFK	chr5:177193333-177193533	IMR90	lung:	n/a	chr5:177193415-177193426 chr5:177193410-177193426 chr5:177193413-177193427 chr5:177193414-177193425 chr5:177193415-177193426
38	PBX3	chr5:177206184-177206372	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:177209940-177210220	A549	lung:	n/a	n/a
40	POLR2A	chr5:177195645-177195881	A549	lung:	n/a	n/a
41	POLR2A	chr5:177188061-177188295	K562	blood:	n/a	n/a
42	POLR2A	chr5:177209861-177210101	A549	lung:	n/a	n/a
43	POLR2A	chr5:177209980-177210245	A549	lung:	n/a	n/a
44	POLR2A	chr5:177209943-177210280	A549	lung:	n/a	n/a
45	POLR2A	chr5:177195744-177195838	Gliobla	brain:	n/a	n/a
46	POLR2A	chr5:177180949-177181073	A549	lung:	n/a	n/a
47	POLR2A	chr5:177195840-177195846	Gliobla	brain:	n/a	n/a
48	POLR2A	chr5:177191548-177191638	Gliobla	brain:	n/a	n/a
49	POLR2A	chr5:177188063-177188291	K562	blood:	n/a	n/a
50	RXRA	chr5:177172076-177172362	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177210257-177210307	HUVEC	blood vessel:	n/a
2	chr5:177209285-177209335	CMK	blood:	n/a
3	chr5:177196865-177196915	Jurkat	blood:	n/a
4	chr5:177209947-177209997	HEEpiC	esophagus:	n/a
5	chr5:177209947-177209997	HRCEpiC	kidney:	n/a
6	chr5:177196865-177196915	AG09309	skin:	n/a
7	chr5:177209285-177209335	NB4	blood:	n/a
8	chr5:177209947-177209997	MCF-7	breast:	n/a
9	chr5:177209947-177209997	NB4	blood:	n/a
10	chr5:177196865-177196915	H1-hESC	embryonic stem cell:	embryo
11	chr5:177209947-177209997	SKMC	muscle:	n/a
12	chr5:177209285-177209335	GM12878	blood:	n/a
13	chr5:177209285-177209335	U87	brain:	n/a
14	chr5:177209947-177209997	HCT-116	colon:	n/a
15	chr5:177209947-177209997	NHBE	bronchial:	n/a
16	chr5:177196865-177196915	ECC-1	luminal epithelium:	n/a
17	chr5:177210257-177210307	CMK	blood:	n/a
18	chr5:177209285-177209335	AoSMC	blood vessel:	n/a
19	chr5:177196865-177196915	NHDF-neo	bronchial:	n/a
20	chr5:177196865-177196915	BJ	skin:	n/a
21	chr5:177210257-177210307	ProgFib	skin:	n/a
22	chr5:177209285-177209335	AG04449	skin:	fetal
23	chr5:177210257-177210307	AG09319	gingival:	n/a
24	chr5:177209947-177209997	HNPCEpiC	eye:	n/a
25	chr5:177209947-177209997	HepG2	liver:	n/a
26	chr5:177210257-177210307	PFSK-1	brain:	n/a
27	chr5:177210257-177210307	HRE	kidney:	n/a
28	chr5:177209285-177209335	HEEpiC	esophagus:	n/a
29	chr5:177209285-177209335	HMEC	breast:	n/a
30	chr5:177196865-177196915	AG09319	gingival:	n/a
31	chr5:177196865-177196915	T-47D	breast:	n/a
32	chr5:177196865-177196915	HL-60	blood:	n/a
33	chr5:177209947-177209997	NHDF-neo	bronchial:	n/a
34	chr5:177209947-177209997	H1-hESC	embryonic stem cell:	embryo
35	chr5:177209947-177209997	GM06990	blood:	n/a
36	chr5:177209947-177209997	AG09309	skin:	n/a
37	chr5:177210257-177210307	HAEpiC	amniotic membrane:	n/a
38	chr5:177210257-177210307	SKMC	muscle:	n/a
39	chr5:177209947-177209997	ovcar-3	ovarian:	n/a
40	chr5:177209285-177209335	HCF	heart:	n/a
41	chr5:177209285-177209335	A549	lung:	n/a
42	chr5:177210257-177210307	NH-A	brain:	n/a
43	chr5:177209947-177209997	GM12891	blood:	n/a
44	chr5:177209947-177209997	RPTEC	kidney:	n/a
45	chr5:177210257-177210307	AG04449	skin:	fetal
46	chr5:177210257-177210307	HIPEpiC	eye:	n/a
47	chr5:177209285-177209335	HCPEpiC	choroid plexus:	n/a
48	chr5:177210257-177210307	AG04450	lung:	fetal
49	chr5:177209285-177209335	GM19239	blood:	n/a
50	chr5:177210257-177210307	Jurkat	blood:	n/a

No data

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-6	chr5:177177960-177178053	NONHSAT105464
2	lnc-FAM193B-7	chr5:177206498-177206718	NONHSAT105467
3	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105468
4	lnc-FAM193B-7	chr5:177208586-177208685	NONHSAT105467
5	lnc-FAM193B-6	chr5:177180177-177180264	NONHSAT105464
6	lnc-FAM193B-6	chr5:177175642-177175700	NONHSAT105464
7	lnc-FAM193B-6	chr5:177174455-177174794	NONHSAT105464
8	lnc-FAM193B-7	chr5:177206557-177206718	NONHSAT105468
9	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105465
10	lnc-FAM193B-7	chr5:177209744-177209814	NONHSAT105468
11	lnc-FAM193B-7	chr5:177189930-177190511	NONHSAT105465
12	lnc-FAM193B-7	chr5:177207450-177207505	NONHSAT105467
13	lnc-FAM193B-7	chr5:177210285-177210365	NONHSAT105465

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: 131 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71603456	chr5:177172351-177172352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62398546	chr5:177172783-177172784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574634373	chr5:177172835-177172836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541516056	chr5:177172870-177172871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs372807334	chr5:177172951-177172952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62398547	chr5:177173097-177173098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545954808	chr5:177173142-177173143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564072036	chr5:177173162-177173163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531489630	chr5:177173208-177173209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545716862	chr5:177174498-177174499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs199751336	chr5:177174513-177174514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557524748	chr5:177174527-177174528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575933417	chr5:177174532-177174533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs543273040	chr5:177174548-177174549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs562556417	chr5:177174573-177174574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530013836	chr5:177174689-177174690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542186640	chr5:177174700-177174701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532057068	chr5:177175651-177175652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs550463849	chr5:177175745-177175746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs7446035	chr5:177178042-177178043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200999109	chr5:177180181-177180182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs201499046	chr5:177180197-177180198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs558178335	chr5:177180200-177180201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576612446	chr5:177180218-177180219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs140590079	chr5:177180222-177180223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs555696831	chr5:177180223-177180224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574147541	chr5:177180233-177180234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs62398555	chr5:177180236-177180237	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs371136382	chr5:177180258-177180259	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs560029233	chr5:177180269-177180270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs533437062	chr5:177180280-177180281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7735142	chr5:177180958-177180959	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530399397	chr5:177180979-177180980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542239509	chr5:177181002-177181003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561076286	chr5:177181004-177181005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191851096	chr5:177181008-177181009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11249686	chr5:177181014-177181015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
38	rs112597806	chr5:177181045-177181046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111370678	chr5:177181072-177181073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs550864279	chr5:177181147-177181148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569149776	chr5:177181148-177181149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537486284	chr5:177181187-177181188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549098149	chr5:177181200-177181201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567795411	chr5:177181205-177181206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189483022	chr5:177181206-177181207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201568423	chr5:177181215-177181216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62398556	chr5:177181217-177181218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62398557	chr5:177181228-177181229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs181921281	chr5:177181231-177181232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187659795	chr5:177181232-177181233	Inactive region	TF binding region	1 gene(s)	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:17 , 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
3	chr5:177209000-177209800	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:177209400-177209600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:177209400-177209600	Enhancers	Pancreas	Pancrea
6	chr5:177209400-177209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:177209400-177209800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr5:177209400-177210200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:177209400-177210400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:177209400-177210400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr5:177209400-177210600	Active TSS	Ovary	ovary
12	chr5:177209600-177209800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:177209600-177209800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:177209600-177210400	Active TSS	Primary T cells fromperipheralblood	blood
15	chr5:177209800-177210400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:177210000-177210400	Active TSS	Brain Angular Gyrus	brain
17	chr5:177210000-177210600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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