Variant report

Variant	esv1826585
Chromosome Location	chr5:177157399-177198449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:177198236-177198491	A549	lung:	n/a	chr5:177198345-177198358
2	CEBPB	chr5:177198402-177198415	K562	blood:	n/a	n/a
3	CEBPB	chr5:177198235-177198496	IMR90	lung:	n/a	chr5:177198345-177198358
4	CTCF	chr5:177194765-177194796	GM10266	blood:	n/a	n/a
5	CTCF	chr5:177189950-177190021	GM10266	blood:	n/a	n/a
6	CTCF	chr5:177180252-177180320	GM13977	blood:	n/a	n/a
7	CTCF	chr5:177175647-177175650	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr5:177162428-177162476	GM13976	blood:	n/a	n/a
9	CTCF	chr5:177162962-177163038	GM13976	blood:	n/a	n/a
10	CTCF	chr5:177175671-177175804	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr5:177188409-177188510	GM10248	blood:	n/a	n/a
12	CTCF	chr5:177197744-177197783	GM20000	blood:	n/a	n/a
13	CTCF	chr5:177171987-177172049	GM20000	blood:	n/a	n/a
14	CTCF	chr5:177188721-177188794	Medullo	brain:	n/a	n/a
15	CTCF	chr5:177160580-177160702	GM20000	blood:	n/a	n/a
16	CTCF	chr5:177167126-177167135	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr5:177164441-177164456	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:177164411-177164467	NHEK	skin:	n/a	n/a
19	CTCF	chr5:177192000-177192050	Medullo	brain:	n/a	n/a
20	CTCF	chr5:177164378-177164493	K562	blood:	n/a	n/a
21	EGR1	chr5:177187970-177188216	K562	blood:	n/a	chr5:177188157-177188172
22	EGR1	chr5:177165486-177165687	K562	blood:	n/a	n/a
23	EGR1	chr5:177187958-177188290	K562	blood:	n/a	chr5:177188157-177188172
24	EP300	chr5:177188129-177188191	K562	blood:	n/a	n/a
25	EP300	chr5:177170247-177170483	GM12878	blood:	n/a	n/a
26	FOS	chr5:177196902-177197097	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
27	FOS	chr5:177196909-177197109	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
28	FOS	chr5:177196913-177197098	MCF10A-Er-Src	breast:	n/a	chr5:177197052-177197059 chr5:177197050-177197059
29	FOSL2	chr5:177162678-177163013	HepG2	liver:	n/a	n/a
30	FOSL2	chr5:177172671-177173093	HepG2	liver:	n/a	n/a
31	FOSL2	chr5:177162681-177163173	HepG2	liver:	n/a	n/a
32	FOSL2	chr5:177172725-177173096	HepG2	liver:	n/a	n/a
33	FOXA1	chr5:177158457-177158950	HepG2	liver:	n/a	n/a
34	FOXA1	chr5:177181143-177181385	HepG2	liver:	n/a	n/a
35	FOXA1	chr5:177162614-177163208	HepG2	liver:	n/a	n/a
36	FOXA1	chr5:177172542-177173214	HepG2	liver:	n/a	n/a
37	FOXA1	chr5:177157669-177158103	HepG2	liver:	n/a	n/a
38	FOXA2	chr5:177190654-177191169	A549	lung:	n/a	n/a
39	GABPA	chr5:177171054-177171264	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr5:177196610-177196826	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr5:177158948-177159158	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr5:177187958-177188349	K562	blood:	n/a	n/a
43	GATA2	chr5:177165424-177165866	K562	blood:	n/a	chr5:177165653-177165661 chr5:177165613-177165630
44	GATA2	chr5:177162977-177163227	K562	blood:	n/a	n/a
45	IRF4	chr5:177158975-177159339	GM12878	blood:	n/a	n/a
46	JUND	chr5:177164106-177164233	HepG2	liver:	n/a	n/a
47	JUND	chr5:177162978-177163156	HepG2	liver:	n/a	n/a
48	JUND	chr5:177172732-177173093	HepG2	liver:	n/a	n/a
49	JUND	chr5:177172739-177172944	HepG2	liver:	n/a	n/a
50	JUND	chr5:177158610-177158779	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177196865-177196915	H1-hESC	embryonic stem cell:	embryo
2	chr5:177196865-177196915	H1-hESC	embryonic stem cell:	embryo
3	chr5:177196865-177196915	PFSK-1	brain:	n/a
4	chr5:177196865-177196915	HCT-116	colon:	n/a
5	chr5:177196865-177196915	NHDF-neo	bronchial:	n/a
6	chr5:177196865-177196915	HCPEpiC	choroid plexus:	n/a
7	chr5:177165350-177165400	Jurkat	blood:	n/a
8	chr5:177196865-177196915	GM06990	blood:	n/a
9	chr5:177196865-177196915	HCF	heart:	n/a
10	chr5:177165350-177165400	ProgFib	skin:	n/a
11	chr5:177196865-177196915	HNPCEpiC	eye:	n/a
12	chr5:177196865-177196915	AG04450	lung:	fetal
13	chr5:177165350-177165400	SK-N-MC	brain:	n/a
14	chr5:177196865-177196915	Jurkat	blood:	n/a
15	chr5:177196865-177196915	LNCaP	prostate:	n/a
16	chr5:177165350-177165400	HRE	kidney:	n/a
17	chr5:177196865-177196915	HIPEpiC	eye:	n/a
18	chr5:177165350-177165400	LNCaP	prostate:	n/a
19	chr5:177165350-177165400	GM12878	blood:	n/a
20	chr5:177196865-177196915	AG09319	gingival:	n/a
21	chr5:177165350-177165400	HUVEC	blood vessel:	n/a
22	chr5:177196865-177196915	ECC-1	luminal epithelium:	n/a
23	chr5:177196865-177196915	AG09309	skin:	n/a
24	chr5:177196865-177196915	A549	lung:	n/a
25	chr5:177165350-177165400	Hela-S3	cervix:	n/a
26	chr5:177165350-177165400	T-47D	breast:	n/a
27	chr5:177165350-177165400	HEEpiC	esophagus:	n/a
28	chr5:177196865-177196915	ovcar-3	ovarian:	n/a
29	chr5:177196865-177196915	NHBE	bronchial:	n/a
30	chr5:177196865-177196915	HEK293	kidney:	embryo
31	chr5:177196865-177196915	GM12891	blood:	n/a
32	chr5:177196865-177196915	GM12878	blood:	n/a
33	chr5:177165350-177165400	HCM	heart:	n/a
34	chr5:177165350-177165400	AG04450	lung:	fetal
35	chr5:177165350-177165400	SAEC	small airway:	n/a
36	chr5:177165350-177165400	RPTEC	kidney:	n/a
37	chr5:177165350-177165400	IMR90	lung:	fetal
38	chr5:177165350-177165400	SK-N-SH	brain:	n/a
39	chr5:177165350-177165400	NHDF-neo	bronchial:	n/a
40	chr5:177196865-177196915	SK-N-SH	brain:	n/a
41	chr5:177165350-177165400	Caco-2	colon:	n/a
42	chr5:177165350-177165400	ECC-1	luminal epithelium:	n/a
43	chr5:177165350-177165400	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:177196865-177196915	SK-N-MC	brain:	n/a
45	chr5:177196865-177196915	CMK	blood:	n/a
46	chr5:177165350-177165400	HCT-116	colon:	n/a
47	chr5:177196865-177196915	AoSMC	blood vessel:	n/a
48	chr5:177165350-177165400	AoSMC	blood vessel:	n/a
49	chr5:177165350-177165400	NB4	blood:	n/a
50	chr5:177196865-177196915	SK-N-SH_RA	brain:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-6	chr5:177180177-177180264	NONHSAT105464
2	lnc-FAM193B-6	chr5:177174455-177174794	NONHSAT105464
3	lnc-FAM193B-6	chr5:177177960-177178053	NONHSAT105464
4	lnc-FAM193B-6	chr5:177175642-177175700	NONHSAT105464
5	lnc-FAM193B-7	chr5:177189930-177190511	NONHSAT105465

No data

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

Extended variants
information (count: 247 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573647113	chr5:177163401-177163402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372029459	chr5:177163558-177163559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376714440	chr5:177163561-177163562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540883162	chr5:177163576-177163577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201479484	chr5:177163580-177163581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143733594	chr5:177163583-177163584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199785250	chr5:177163584-177163585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368014891	chr5:177163609-177163610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372271597	chr5:177163622-177163623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201144971	chr5:177163623-177163624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375609054	chr5:177163640-177163641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546301656	chr5:177163656-177163657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564451759	chr5:177163678-177163679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568318643	chr5:177163680-177163681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531827557	chr5:177163765-177163766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550442593	chr5:177163772-177163773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200786178	chr5:177163782-177163783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568622302	chr5:177163837-177163838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529622698	chr5:177163895-177163896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113747897	chr5:177163961-177163962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548074728	chr5:177163976-177163977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565689138	chr5:177163982-177163983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539089983	chr5:177164002-177164003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200693685	chr5:177164018-177164019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557719475	chr5:177164020-177164021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113649487	chr5:177164038-177164039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200041092	chr5:177164044-177164045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147185995	chr5:177164053-177164054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569689850	chr5:177164073-177164074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373513397	chr5:177164076-177164077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375821554	chr5:177164080-177164081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148669219	chr5:177164086-177164087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369078828	chr5:177164087-177164088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573461900	chr5:177164188-177164189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540942596	chr5:177164189-177164190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552966556	chr5:177164217-177164218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148572743	chr5:177164241-177164242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142090785	chr5:177164274-177164275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564498067	chr5:177164287-177164288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531843712	chr5:177164297-177164298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182116431	chr5:177164346-177164347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562280634	chr5:177164350-177164351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529482609	chr5:177164402-177164403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201403241	chr5:177164441-177164442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547949107	chr5:177164469-177164470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79820182	chr5:177164491-177164492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533666085	chr5:177164492-177164493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139060669	chr5:177164505-177164506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144001014	chr5:177164518-177164519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146431445	chr5:177164551-177164552	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177163400-177167600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:177188000-177188400	Enhancers	K562	blood
3	chr5:177190800-177191800	Enhancers	Fetal Muscle Leg	muscle

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