Variant report

Variant	esv2762570
Chromosome Location	chr5:177101771-177138875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:177122231-177122685	K562	blood:	n/a	n/a
2	CEBPB	chr5:177103493-177103545	K562	blood:	n/a	n/a
3	CTCF	chr5:177135200-177135233	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr5:177102280-177102447	A549	lung:	n/a	n/a
5	CTCF	chr5:177102271-177102442	GM19239	blood:	n/a	n/a
6	CTCF	chr5:177102350-177102370	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr5:177102258-177102450	GM19238	blood:	n/a	n/a
8	CTCF	chr5:177102247-177102527	A549	lung:	n/a	n/a
9	CTCF	chr5:177102283-177102439	GM19240	blood:	n/a	n/a
10	CTCF	chr5:177120125-177120195	HepG2	liver:	n/a	n/a
11	CTCF	chr5:177102288-177102433	GM12892	blood:	n/a	n/a
12	CTCF	chr5:177133210-177133226	GM10266	blood:	n/a	n/a
13	CTCF	chr5:177102287-177102424	ProgFib	skin:	n/a	n/a
14	CTCF	chr5:177102261-177102462	K562	blood:	n/a	n/a
15	CTCF	chr5:177102324-177102426	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr5:177102278-177102430	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:177102363-177102390	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:177102109-177102470	A549	lung:	n/a	n/a
19	CTCF	chr5:177135307-177135407	GM20000	blood:	n/a	n/a
20	CTCF	chr5:177102255-177102452	Gliobla	brain:	n/a	n/a
21	CTCF	chr5:177111186-177111252	ProgFib	skin:	n/a	n/a
22	CTCF	chr5:177102316-177102433	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr5:177102266-177102422	HepG2	liver:	n/a	n/a
24	CTCF	chr5:177102291-177102422	Fibrobl	skin:	n/a	n/a
25	CTCF	chr5:177102393-177102434	Medullo	brain:	n/a	n/a
26	CTCF	chr5:177120058-177120341	K562	blood:	n/a	n/a
27	CTCF	chr5:177102294-177102414	Lung_OC	lung:	n/a	n/a
28	CTCF	chr5:177102263-177102459	GM12878	blood:	n/a	n/a
29	CTCF	chr5:177102286-177102442	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr5:177120104-177120213	K562	blood:	n/a	n/a
31	CTCF	chr5:177102259-177102440	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:177102250-177102455	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:177102198-177102433	A549	lung:	n/a	n/a
34	CTCF	chr5:177120086-177120245	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr5:177102279-177102438	NHEK	skin:	n/a	n/a
36	CTCF	chr5:177119961-177120460	K562	blood:	n/a	n/a
37	E2F4	chr5:177112373-177112413	MCF10A-Er-Src	breast:	n/a	n/a
38	ESR1	chr5:177108670-177109180	T-47D	breast:	n/a	n/a
39	ESR1	chr5:177108723-177109147	T-47D	breast:	n/a	n/a
40	FOSL2	chr5:177120874-177121386	HepG2	liver:	n/a	chr5:177121000-177121012
41	FOSL2	chr5:177120929-177121377	HepG2	liver:	n/a	chr5:177121000-177121012
42	FOXA1	chr5:177115657-177115950	HepG2	liver:	n/a	n/a
43	FOXA1	chr5:177122136-177122706	HepG2	liver:	n/a	n/a
44	FOXA1	chr5:177120944-177121283	HepG2	liver:	n/a	n/a
45	FOXA1	chr5:177124105-177124604	HepG2	liver:	n/a	chr5:177124334-177124346
46	FOXA1	chr5:177120950-177121844	HepG2	liver:	n/a	n/a
47	FOXA1	chr5:177120989-177121273	HepG2	liver:	n/a	n/a
48	FOXA1	chr5:177119493-177119859	HepG2	liver:	n/a	n/a
49	FOXA2	chr5:177122278-177122644	A549	lung:	n/a	n/a
50	GATA2	chr5:177102141-177102525	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177103100-177103150	Jurkat	blood:	n/a
2	chr5:177103100-177103150	Jurkat	blood:	n/a
3	chr5:177103100-177103150	PFSK-1	brain:	n/a
4	chr5:177103100-177103150	ECC-1	luminal epithelium:	n/a
5	chr5:177103100-177103150	HMEC	breast:	n/a
6	chr5:177103100-177103150	BE2_C	brain:	n/a
7	chr5:177103100-177103150	HEEpiC	esophagus:	n/a
8	chr5:177103100-177103150	IMR90	lung:	fetal
9	chr5:177103100-177103150	NB4	blood:	n/a
10	chr5:177103100-177103150	PrEC	prostate:	n/a
11	chr5:177103100-177103150	ProgFib	skin:	n/a
12	chr5:177103100-177103150	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:177103100-177103150	HIPEpiC	eye:	n/a
14	chr5:177103100-177103150	HUVEC	blood vessel:	n/a
15	chr5:177103100-177103150	A549	lung:	n/a
16	chr5:177103100-177103150	HRPEpiC	eye:	n/a
17	chr5:177103100-177103150	GM12891	blood:	n/a
18	chr5:177103100-177103150	HL-60	blood:	n/a
19	chr5:177103100-177103150	RPTEC	kidney:	n/a
20	chr5:177103100-177103150	HepG2	liver:	n/a
21	chr5:177103100-177103150	SK-N-MC	brain:	n/a
22	chr5:177103100-177103150	AG09319	gingival:	n/a
23	chr5:177103100-177103150	MCF10A-Er-Src	breast:	n/a
24	chr5:177103100-177103150	HCT-116	colon:	n/a
25	chr5:177103100-177103150	NHDF-neo	bronchial:	n/a
26	chr5:177103100-177103150	GM06990	blood:	n/a
27	chr5:177103100-177103150	PANC-1	pancreas:	n/a
28	chr5:177103100-177103150	MCF-7	breast:	n/a
29	chr5:177103100-177103150	Hepatocyte	liver:	n/a
30	chr5:177103100-177103150	AoSMC	blood vessel:	n/a
31	chr5:177103100-177103150	H1-hESC	embryonic stem cell:	embryo
32	chr5:177103100-177103150	NT2-D1	testis:	n/a
33	chr5:177103100-177103150	SK-N-SH_RA	brain:	n/a
34	chr5:177103100-177103150	SKMC	muscle:	n/a
35	chr5:177103100-177103150	AG09309	skin:	n/a
36	chr5:177103100-177103150	LNCaP	prostate:	n/a
37	chr5:177103100-177103150	HRE	kidney:	n/a
38	chr5:177103100-177103150	SK-N-SH	brain:	n/a
39	chr5:177103100-177103150	AG04450	lung:	fetal
40	chr5:177103100-177103150	CMK	blood:	n/a
41	chr5:177103100-177103150	HCPEpiC	choroid plexus:	n/a
42	chr5:177103100-177103150	HCM	heart:	n/a
43	chr5:177103100-177103150	U87	brain:	n/a
44	chr5:177103100-177103150	HEK293	kidney:	embryo
45	chr5:177103100-177103150	AG10803	skin:	n/a
46	chr5:177103100-177103150	GM19239	blood:	n/a
47	chr5:177103100-177103150	GM12892	blood:	n/a
48	chr5:177103100-177103150	GM12878	blood:	n/a
49	chr5:177103100-177103150	HNPCEpiC	eye:	n/a
50	chr5:177103100-177103150	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1026M7.2.1-2	chr5:177133707-177133886	ENSG00000249849.1
2	lnc-RP11-1026M7.2.1-2	chr5:177109295-177109372	ENSG00000249849.1

No data

Variant related genes	Relation type
ENSG00000249849	TF binding region
ENSG00000246596	TF binding region
ENSG00000249849	CpG island
ENSG00000246596	CpG island

Extended variants
information (count: 293 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554431766	chr5:177102128-177102129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187683450	chr5:177102187-177102188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs193236768	chr5:177102203-177102204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10045871	chr5:177102261-177102262	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567118725	chr5:177102282-177102283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2650328	chr5:177102283-177102284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576166948	chr5:177102355-177102356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543647690	chr5:177102361-177102362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555565113	chr5:177102366-177102367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573863482	chr5:177102369-177102370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373898920	chr5:177102389-177102390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540992944	chr5:177102432-177102433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559592931	chr5:177102477-177102478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184060768	chr5:177102481-177102482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs536081129	chr5:177102502-177102503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546138621	chr5:177102503-177102504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184006879	chr5:177103100-177103101	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs564104605	chr5:177103113-177103114	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs531583862	chr5:177103120-177103121	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs566577164	chr5:177103123-177103124	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs541289208	chr5:177104337-177104338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559865476	chr5:177104435-177104436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533339059	chr5:177104445-177104446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs548951841	chr5:177104602-177104603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs577078471	chr5:177104608-177104609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567270566	chr5:177104615-177104616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534680270	chr5:177104644-177104645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377311569	chr5:177104646-177104647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2133708	chr5:177104663-177104664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185389919	chr5:177104665-177104666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538452380	chr5:177104776-177104777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190005564	chr5:177104783-177104784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs183073144	chr5:177104785-177104786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373279804	chr5:177104786-177104787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs537052785	chr5:177104804-177104805	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376751582	chr5:177104824-177104825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577524251	chr5:177104861-177104862	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574068281	chr5:177104862-177104863	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541539538	chr5:177104869-177104870	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559587180	chr5:177104876-177104877	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs578153307	chr5:177104877-177104878	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs545121724	chr5:177104891-177104892	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs150302445	chr5:177104994-177104995	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs73804382	chr5:177105010-177105011	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369357048	chr5:177105017-177105018	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs17832583	chr5:177105020-177105021	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs185926707	chr5:177105085-177105086	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs137933615	chr5:177105095-177105096	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149531767	chr5:177105121-177105122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528053705	chr5:177105153-177105154	Active TSS	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177104600-177105200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:177117000-177117600	Active TSS	K562	blood
3	chr5:177117600-177121000	Weak transcription	K562	blood
4	chr5:177119800-177120800	Enhancers	HepG2	liver
5	chr5:177119800-177121000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:177119800-177121200	Enhancers	Fetal Lung	lung
7	chr5:177120400-177121000	Enhancers	Left Ventricle	heart
8	chr5:177120400-177121000	Enhancers	Stomach Mucosa	stomach
9	chr5:177120600-177121000	Enhancers	Liver	Liver
10	chr5:177120600-177121000	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:177120600-177121000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr5:177120800-177121200	Enhancers	Ovary	ovary
13	chr5:177120800-177121200	Flanking Active TSS	HepG2	liver
14	chr5:177120800-177122000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:177121000-177121400	Enhancers	K562	blood
16	chr5:177121200-177122200	Enhancers	HepG2	liver
17	chr5:177121400-177121600	Weak transcription	K562	blood
18	chr5:177121600-177122000	Enhancers	K562	blood
19	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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