Variant report

Variant	esv33718
Chromosome Location	chr5:177136260-177168505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 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	chr5:177164411-177164467	NHEK	skin:	n/a	n/a
4	CTCF	chr5:177142429-177142496	GM10248	blood:	n/a	n/a
5	CTCF	chr5:177167126-177167135	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr5:177154518-177154531	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr5:177151893-177151914	GM13976	blood:	n/a	n/a
8	CTCF	chr5:177154505-177154557	GM13976	blood:	n/a	n/a
9	CTCF	chr5:177164441-177164456	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr5:177162962-177163038	GM13976	blood:	n/a	n/a
11	CTCF	chr5:177162428-177162476	GM13976	blood:	n/a	n/a
12	CTCF	chr5:177147981-177148028	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr5:177154962-177155052	LNCaP	prostate:	n/a	n/a
14	CTCF	chr5:177160580-177160702	GM20000	blood:	n/a	n/a
15	CTCF	chr5:177152048-177152416	K562	blood:	n/a	n/a
16	CTCF	chr5:177152190-177152405	K562	blood:	n/a	n/a
17	CTCF	chr5:177150845-177150928	GM13976	blood:	n/a	n/a
18	CTCF	chr5:177152318-177152397	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:177164378-177164493	K562	blood:	n/a	n/a
20	CTCF	chr5:177150841-177150931	LNCaP	prostate:	n/a	n/a
21	EBF1	chr5:177151154-177151369	GM12878	blood:	n/a	n/a
22	EBF1	chr5:177149937-177150141	GM12878	blood:	n/a	n/a
23	EGR1	chr5:177165486-177165687	K562	blood:	n/a	n/a
24	FOSL2	chr5:177154778-177155198	HepG2	liver:	n/a	n/a
25	FOSL2	chr5:177151702-177152141	HepG2	liver:	n/a	chr5:177151730-177151742 chr5:177151732-177151740
26	FOSL2	chr5:177154858-177155495	HepG2	liver:	n/a	n/a
27	FOSL2	chr5:177162678-177163013	HepG2	liver:	n/a	n/a
28	FOSL2	chr5:177150815-177151144	HepG2	liver:	n/a	n/a
29	FOSL2	chr5:177153564-177153860	HepG2	liver:	n/a	n/a
30	FOSL2	chr5:177149491-177150270	HepG2	liver:	n/a	chr5:177149650-177149661
31	FOSL2	chr5:177150551-177150783	HepG2	liver:	n/a	n/a
32	FOSL2	chr5:177152478-177153184	HepG2	liver:	n/a	n/a
33	FOSL2	chr5:177162681-177163173	HepG2	liver:	n/a	n/a
34	FOXA1	chr5:177154686-177155563	HepG2	liver:	n/a	n/a
35	FOXA1	chr5:177157669-177158103	HepG2	liver:	n/a	n/a
36	FOXA1	chr5:177162614-177163208	HepG2	liver:	n/a	n/a
37	FOXA1	chr5:177155867-177156391	HepG2	liver:	n/a	n/a
38	FOXA1	chr5:177158457-177158950	HepG2	liver:	n/a	n/a
39	GABPA	chr5:177156403-177156613	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr5:177158948-177159158	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr5:177149910-177150198	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr5:177165424-177165866	K562	blood:	n/a	chr5:177165653-177165661 chr5:177165613-177165630
43	GATA2	chr5:177162977-177163227	K562	blood:	n/a	n/a
44	IRF4	chr5:177156430-177156769	GM12878	blood:	n/a	n/a
45	IRF4	chr5:177158975-177159339	GM12878	blood:	n/a	n/a
46	JUND	chr5:177162978-177163156	HepG2	liver:	n/a	n/a
47	JUND	chr5:177154880-177155066	HepG2	liver:	n/a	n/a
48	JUND	chr5:177154836-177155265	HepG2	liver:	n/a	n/a
49	JUND	chr5:177156017-177156190	HepG2	liver:	n/a	n/a
50	JUND	chr5:177149955-177150176	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177165350-177165400	Hela-S3	cervix:	n/a
2	chr5:177165350-177165400	U87	brain:	n/a
3	chr5:177165350-177165400	AG09309	skin:	n/a
4	chr5:177165350-177165400	SK-N-SH_RA	brain:	n/a
5	chr5:177165350-177165400	HCF	heart:	n/a
6	chr5:177165350-177165400	HCT-116	colon:	n/a
7	chr5:177165350-177165400	GM12891	blood:	n/a
8	chr5:177165350-177165400	H1-hESC	embryonic stem cell:	embryo
9	chr5:177165350-177165400	NHBE	bronchial:	n/a
10	chr5:177165350-177165400	PrEC	prostate:	n/a
11	chr5:177165350-177165400	SAEC	small airway:	n/a
12	chr5:177165350-177165400	PANC-1	pancreas:	n/a
13	chr5:177165350-177165400	LNCaP	prostate:	n/a
14	chr5:177165350-177165400	HRE	kidney:	n/a
15	chr5:177165350-177165400	CMK	blood:	n/a
16	chr5:177165350-177165400	NHDF-neo	bronchial:	n/a
17	chr5:177165350-177165400	HAEpiC	amniotic membrane:	n/a
18	chr5:177165350-177165400	AG09319	gingival:	n/a
19	chr5:177165350-177165400	NH-A	brain:	n/a
20	chr5:177165350-177165400	SK-N-MC	brain:	n/a
21	chr5:177165350-177165400	HIPEpiC	eye:	n/a
22	chr5:177165350-177165400	HMEC	breast:	n/a
23	chr5:177165350-177165400	SKMC	muscle:	n/a
24	chr5:177165350-177165400	AG04449	skin:	fetal
25	chr5:177165350-177165400	AoSMC	blood vessel:	n/a
26	chr5:177165350-177165400	ProgFib	skin:	n/a
27	chr5:177165350-177165400	ovcar-3	ovarian:	n/a
28	chr5:177165350-177165400	GM12892	blood:	n/a
29	chr5:177165350-177165400	BE2_C	brain:	n/a
30	chr5:177165350-177165400	GM19239	blood:	n/a
31	chr5:177165350-177165400	HRPEpiC	eye:	n/a
32	chr5:177165350-177165400	HL-60	blood:	n/a
33	chr5:177165350-177165400	K562	blood:	n/a
34	chr5:177165350-177165400	GM12878	blood:	n/a
35	chr5:177165350-177165400	Caco-2	colon:	n/a
36	chr5:177165350-177165400	MCF-7	breast:	n/a
37	chr5:177165350-177165400	GM06990	blood:	n/a
38	chr5:177165350-177165400	HNPCEpiC	eye:	n/a
39	chr5:177165350-177165400	MCF10A-Er-Src	breast:	n/a
40	chr5:177165350-177165400	Jurkat	blood:	n/a
41	chr5:177165350-177165400	HCPEpiC	choroid plexus:	n/a
42	chr5:177165350-177165400	HCM	heart:	n/a
43	chr5:177165350-177165400	SK-N-SH	brain:	n/a
44	chr5:177165350-177165400	IMR90	lung:	fetal
45	chr5:177165350-177165400	A549	lung:	n/a
46	chr5:177165350-177165400	T-47D	breast:	n/a
47	chr5:177165350-177165400	HRCEpiC	kidney:	n/a
48	chr5:177165350-177165400	Hepatocyte	liver:	n/a
49	chr5:177165350-177165400	NB4	blood:	n/a
50	chr5:177165350-177165400	HEEpiC	esophagus:	n/a

No data

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-4	chr5:177143346-177143416	NONHSAT105457
2	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105457
3	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105455
4	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105457
5	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105457
6	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT147372
7	lnc-FAM193B-4	chr5:177139121-177140171	NONHSAT105455
8	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105457
9	lnc-FAM193B-4	chr5:177141070-177141181	NONHSAT105458
10	lnc-FAM193B-4	chr5:177145148-177145334	NONHSAT105457
11	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT147372
12	lnc-FAM193B-4	chr5:177140026-177140171	NONHSAT147372
13	lnc-FAM193B-4	chr5:177144164-177144297	NONHSAT105456
14	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105457
15	lnc-FAM193B-4	chr5:177140749-177140917	NONHSAT105456
16	lnc-FAM193B-4	chr5:177143346-177143364	NONHSAT147372
17	lnc-FAM193B-4	chr5:177145450-177145570	NONHSAT105456
18	lnc-RP11-1026M7.2.1-2	chr5:177140798-177140970	ENSG00000249849.1
19	lnc-FAM193B-4	chr5:177143346-177143367	NONHSAT105455
20	lnc-FAM193B-4	chr5:177139134-177140171	NONHSAT105456
21	lnc-FAM193B-5	chr5:177149895-177150157	NONHSAT105459
22	lnc-FAM193B-4	chr5:177141050-177141178	NONHSAT105455
23	lnc-FAM193B-5	chr5:177149337-177149570	NONHSAT105459
24	lnc-FAM193B-4	chr5:177140795-177140917	NONHSAT105458
25	lnc-FAM193B-4	chr5:177141070-177141178	NONHSAT105456

No data

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

Extended variants
information (count: 560 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572094399	chr5:177137414-177137415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185623057	chr5:177137424-177137425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371307594	chr5:177137491-177137492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369107815	chr5:177137497-177137498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564056314	chr5:177137627-177137628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531476358	chr5:177137679-177137680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113320415	chr5:177137697-177137698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543542022	chr5:177137744-177137745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574938243	chr5:177137766-177137767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561740059	chr5:177137846-177137847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529040894	chr5:177137877-177137878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189423999	chr5:177137937-177137938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145454843	chr5:177137958-177137959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533034630	chr5:177138058-177138059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544882537	chr5:177138112-177138113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544089797	chr5:177138166-177138167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181943664	chr5:177138251-177138252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11748057	chr5:177138274-177138275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570502718	chr5:177138281-177138282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6601075	chr5:177138298-177138299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs529944055	chr5:177138305-177138306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184213675	chr5:177138318-177138319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568576801	chr5:177138336-177138337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540395916	chr5:177138364-177138365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188966346	chr5:177138381-177138382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560108436	chr5:177138421-177138422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114914260	chr5:177138425-177138426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113653651	chr5:177138505-177138506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6866477	chr5:177138515-177138516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552418756	chr5:177138526-177138527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3104691	chr5:177138536-177138537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181196751	chr5:177138538-177138539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3104692	chr5:177138569-177138570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186515316	chr5:177138581-177138582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10064983	chr5:177138597-177138598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561785632	chr5:177138621-177138622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529096901	chr5:177138627-177138628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541247000	chr5:177138660-177138661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543130610	chr5:177138695-177138696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533095812	chr5:177138703-177138704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551258517	chr5:177138716-177138717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149139557	chr5:177138777-177138778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531558045	chr5:177138782-177138783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190979934	chr5:177138815-177138816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143373159	chr5:177138830-177138831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180991912	chr5:177138831-177138832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531780950	chr5:177138848-177138849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142274336	chr5:177138850-177138851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146359629	chr5:177138858-177138859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554386977	chr5:177138888-177138889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Breast cancer	22522925	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:177139400-177150800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:177142200-177143000	Enhancers	NHEK	skin
4	chr5:177142400-177142800	Enhancers	HMEC	breast
5	chr5:177142400-177143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:177151000-177151200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:177151000-177151600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:177163400-177167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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