Variant report

Variant	esv1792270
Chromosome Location	chr5:177145695-177180958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:177150142-177150215	K562	blood:	n/a	n/a
2	CEBPB	chr5:177150022-177150211	HepG2	liver:	n/a	n/a
3	CTCF	chr5:177147981-177148028	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr5:177150841-177150931	LNCaP	prostate:	n/a	n/a
5	CTCF	chr5:177175671-177175804	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr5:177152190-177152405	K562	blood:	n/a	n/a
7	CTCF	chr5:177180252-177180320	GM13977	blood:	n/a	n/a
8	CTCF	chr5:177171987-177172049	GM20000	blood:	n/a	n/a
9	CTCF	chr5:177152048-177152416	K562	blood:	n/a	n/a
10	CTCF	chr5:177154518-177154531	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr5:177167126-177167135	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr5:177150845-177150928	GM13976	blood:	n/a	n/a
13	CTCF	chr5:177175647-177175650	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr5:177152318-177152397	LNCaP	prostate:	n/a	n/a
15	CTCF	chr5:177164411-177164467	NHEK	skin:	n/a	n/a
16	CTCF	chr5:177154505-177154557	GM13976	blood:	n/a	n/a
17	CTCF	chr5:177164378-177164493	K562	blood:	n/a	n/a
18	CTCF	chr5:177151893-177151914	GM13976	blood:	n/a	n/a
19	CTCF	chr5:177162962-177163038	GM13976	blood:	n/a	n/a
20	CTCF	chr5:177164441-177164456	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr5:177162428-177162476	GM13976	blood:	n/a	n/a
22	CTCF	chr5:177160580-177160702	GM20000	blood:	n/a	n/a
23	CTCF	chr5:177154962-177155052	LNCaP	prostate:	n/a	n/a
24	EBF1	chr5:177151154-177151369	GM12878	blood:	n/a	n/a
25	EBF1	chr5:177149937-177150141	GM12878	blood:	n/a	n/a
26	EGR1	chr5:177165486-177165687	K562	blood:	n/a	n/a
27	EP300	chr5:177170247-177170483	GM12878	blood:	n/a	n/a
28	FOSL2	chr5:177172725-177173096	HepG2	liver:	n/a	n/a
29	FOSL2	chr5:177162678-177163013	HepG2	liver:	n/a	n/a
30	FOSL2	chr5:177152478-177153184	HepG2	liver:	n/a	n/a
31	FOSL2	chr5:177154778-177155198	HepG2	liver:	n/a	n/a
32	FOSL2	chr5:177154858-177155495	HepG2	liver:	n/a	n/a
33	FOSL2	chr5:177149491-177150270	HepG2	liver:	n/a	chr5:177149650-177149661
34	FOSL2	chr5:177153564-177153860	HepG2	liver:	n/a	n/a
35	FOSL2	chr5:177151702-177152141	HepG2	liver:	n/a	chr5:177151730-177151742 chr5:177151732-177151740
36	FOSL2	chr5:177150815-177151144	HepG2	liver:	n/a	n/a
37	FOSL2	chr5:177172671-177173093	HepG2	liver:	n/a	n/a
38	FOSL2	chr5:177150551-177150783	HepG2	liver:	n/a	n/a
39	FOSL2	chr5:177162681-177163173	HepG2	liver:	n/a	n/a
40	FOXA1	chr5:177162614-177163208	HepG2	liver:	n/a	n/a
41	FOXA1	chr5:177154686-177155563	HepG2	liver:	n/a	n/a
42	FOXA1	chr5:177157669-177158103	HepG2	liver:	n/a	n/a
43	FOXA1	chr5:177172542-177173214	HepG2	liver:	n/a	n/a
44	FOXA1	chr5:177158457-177158950	HepG2	liver:	n/a	n/a
45	FOXA1	chr5:177155867-177156391	HepG2	liver:	n/a	n/a
46	GABPA	chr5:177171054-177171264	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr5:177149910-177150198	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr5:177156403-177156613	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr5:177158948-177159158	Hela-S3	cervix:	n/a	n/a
50	GATA2	chr5:177162977-177163227	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177165350-177165400	HMEC	breast:	n/a
2	chr5:177165350-177165400	HEEpiC	esophagus:	n/a
3	chr5:177165350-177165400	HCM	heart:	n/a
4	chr5:177165350-177165400	AG10803	skin:	n/a
5	chr5:177165350-177165400	ECC-1	luminal epithelium:	n/a
6	chr5:177165350-177165400	HUVEC	blood vessel:	n/a
7	chr5:177165350-177165400	SK-N-SH	brain:	n/a
8	chr5:177165350-177165400	AG09309	skin:	n/a
9	chr5:177165350-177165400	H1-hESC	embryonic stem cell:	embryo
10	chr5:177165350-177165400	HRE	kidney:	n/a
11	chr5:177165350-177165400	ProgFib	skin:	n/a
12	chr5:177165350-177165400	ovcar-3	ovarian:	n/a
13	chr5:177165350-177165400	IMR90	lung:	fetal
14	chr5:177165350-177165400	HepG2	liver:	n/a
15	chr5:177165350-177165400	PFSK-1	brain:	n/a
16	chr5:177165350-177165400	AG04450	lung:	fetal
17	chr5:177165350-177165400	CMK	blood:	n/a
18	chr5:177165350-177165400	NH-A	brain:	n/a
19	chr5:177165350-177165400	HRCEpiC	kidney:	n/a
20	chr5:177165350-177165400	Hela-S3	cervix:	n/a
21	chr5:177165350-177165400	RPTEC	kidney:	n/a
22	chr5:177165350-177165400	LNCaP	prostate:	n/a
23	chr5:177165350-177165400	SKMC	muscle:	n/a
24	chr5:177165350-177165400	MCF-7	breast:	n/a
25	chr5:177165350-177165400	GM06990	blood:	n/a
26	chr5:177165350-177165400	BE2_C	brain:	n/a
27	chr5:177165350-177165400	GM12891	blood:	n/a
28	chr5:177165350-177165400	HNPCEpiC	eye:	n/a
29	chr5:177165350-177165400	U87	brain:	n/a
30	chr5:177165350-177165400	AG04449	skin:	fetal
31	chr5:177165350-177165400	HAEpiC	amniotic membrane:	n/a
32	chr5:177165350-177165400	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:177165350-177165400	SK-N-MC	brain:	n/a
34	chr5:177165350-177165400	HCF	heart:	n/a
35	chr5:177165350-177165400	NB4	blood:	n/a
36	chr5:177165350-177165400	HCT-116	colon:	n/a
37	chr5:177165350-177165400	HIPEpiC	eye:	n/a
38	chr5:177165350-177165400	HRPEpiC	eye:	n/a
39	chr5:177165350-177165400	GM12878	blood:	n/a
40	chr5:177165350-177165400	Caco-2	colon:	n/a
41	chr5:177165350-177165400	NHDF-neo	bronchial:	n/a
42	chr5:177165350-177165400	NT2-D1	testis:	n/a
43	chr5:177165350-177165400	HL-60	blood:	n/a
44	chr5:177165350-177165400	GM19239	blood:	n/a
45	chr5:177165350-177165400	BJ	skin:	n/a
46	chr5:177165350-177165400	AG09319	gingival:	n/a
47	chr5:177165350-177165400	MCF10A-Er-Src	breast:	n/a
48	chr5:177165350-177165400	T-47D	breast:	n/a
49	chr5:177165350-177165400	AoSMC	blood vessel:	n/a
50	chr5:177165350-177165400	PANC-1	pancreas:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-6	chr5:177175642-177175700	NONHSAT105464
2	lnc-FAM193B-5	chr5:177149895-177150157	NONHSAT105459
3	lnc-FAM193B-6	chr5:177174455-177174794	NONHSAT105464
4	lnc-FAM193B-5	chr5:177149337-177149570	NONHSAT105459
5	lnc-FAM193B-6	chr5:177177960-177178053	NONHSAT105464
6	lnc-FAM193B-6	chr5:177180177-177180264	NONHSAT105464

No data

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

Extended variants
information (count: 324 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10479550	chr5:177145695-177145696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556459701	chr5:177145718-177145719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371142194	chr5:177145740-177145741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571131845	chr5:177145808-177145809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60460280	chr5:177145832-177145833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542532251	chr5:177145847-177145848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187042975	chr5:177145899-177145900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199566830	chr5:177145901-177145902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200796176	chr5:177145905-177145906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183299666	chr5:177145970-177145971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564178867	chr5:177146006-177146007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531282917	chr5:177146010-177146011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146818842	chr5:177146024-177146025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561721599	chr5:177146089-177146090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576350962	chr5:177146095-177146096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529232712	chr5:177146250-177146251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111767637	chr5:177146267-177146268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71251393	chr5:177146354-177146355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560127329	chr5:177146392-177146393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527646357	chr5:177146404-177146405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552276052	chr5:177146414-177146415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570954385	chr5:177146481-177146482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182262990	chr5:177146556-177146557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537937060	chr5:177146576-177146577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550390504	chr5:177146578-177146579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568513973	chr5:177146590-177146591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201310944	chr5:177146659-177146660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201908777	chr5:177147052-177147053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536164377	chr5:177147803-177147804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554469400	chr5:177147831-177147832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572092422	chr5:177147834-177147835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113538940	chr5:177148079-177148080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1696876	chr5:177148156-177148157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542331683	chr5:177148554-177148555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199874750	chr5:177148694-177148695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538471072	chr5:177148695-177148696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186512690	chr5:177148768-177148769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111566022	chr5:177148917-177148918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557451770	chr5:177148965-177148966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369266801	chr5:177148966-177148967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186459474	chr5:177148970-177148971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576125201	chr5:177148979-177148980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543146505	chr5:177148983-177148984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138740729	chr5:177148985-177148986	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs561925263	chr5:177148999-177149000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572503796	chr5:177149003-177149004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112534566	chr5:177149052-177149053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62398522	chr5:177149175-177149176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3929426	chr5:177149207-177149208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3929427	chr5:177149227-177149228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177139400-177150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:177151000-177151200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:177151000-177151600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:177163400-177167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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