Variant report

Variant	esv2762171
Chromosome Location	chr1:225390933-225463772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:225396825-225397387	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:225416534-225417017	HepG2	liver:	n/a	n/a
3	ATF2	chr1:225438070-225438415	GM12878	blood:	n/a	n/a
4	BATF	chr1:225438165-225438534	GM12878	blood:	n/a	n/a
5	BATF	chr1:225438147-225438493	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:225438111-225438466	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:225438166-225438412	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:225438084-225438466	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:225417850-225417972	IMR90	lung:	n/a	chr1:225417940-225417951
10	CEBPB	chr1:225447251-225447411	HepG2	liver:	n/a	chr1:225447297-225447308
11	CEBPB	chr1:225412593-225412887	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:225459947-225460000	A549	lung:	n/a	n/a
13	CEBPB	chr1:225424526-225424624	A549	lung:	n/a	n/a
14	CEBPB	chr1:225396821-225397186	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:225417884-225418049	HepG2	liver:	n/a	chr1:225417940-225417951
16	CEBPZ	chr1:225416674-225416952	HepG2	liver:	n/a	n/a
17	CHD2	chr1:225438181-225438501	GM12878	blood:	n/a	n/a
18	CTCF	chr1:225440960-225441110	GM12865	blood:	n/a	n/a
19	CTCF	chr1:225390860-225391010	NHLF	lung:	n/a	n/a
20	CTCF	chr1:225440980-225441130	HCFaa	heart:	n/a	n/a
21	CTCF	chr1:225441020-225441170	GM12873	blood:	n/a	n/a
22	CTCF	chr1:225441000-225441150	HMF	breast:	n/a	n/a
23	CTCF	chr1:225433773-225433906	GM10248	blood:	n/a	n/a
24	CTCF	chr1:225411000-225411150	GM12872	blood:	n/a	n/a
25	CTCF	chr1:225440960-225441110	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr1:225441040-225441190	HL-60	blood:	n/a	n/a
27	CTCF	chr1:225441060-225441210	HMEC	breast:	n/a	n/a
28	CTCF	chr1:225440960-225441110	HPF	lung:	n/a	n/a
29	CTCF	chr1:225441000-225441150	GM12875	blood:	n/a	n/a
30	CTCF	chr1:225440980-225441130	GM12864	blood:	n/a	n/a
31	CTCF	chr1:225438637-225438658	Lung_OC	lung:	n/a	n/a
32	CTCF	chr1:225440980-225441130	BE2_C	brain:	n/a	n/a
33	CTCF	chr1:225441040-225441190	GM12872	blood:	n/a	n/a
34	CTCF	chr1:225433776-225433885	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr1:225440960-225441110	AG10803	skin:	n/a	n/a
36	CTCF	chr1:225440940-225441090	NB4	blood:	n/a	n/a
37	CTCF	chr1:225440980-225441130	AG10803	skin:	n/a	n/a
38	CTCF	chr1:225441000-225441150	HEK293	kidney:	n/a	n/a
39	CTCF	chr1:225461069-225461111	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr1:225448944-225449026	GM13976	blood:	n/a	n/a
41	CTCF	chr1:225440920-225441070	GM12869	blood:	n/a	n/a
42	CTCF	chr1:225441100-225441250	GM12871	blood:	n/a	n/a
43	CTCF	chr1:225441080-225441230	GM12872	blood:	n/a	n/a
44	CTCF	chr1:225441031-225441162	K562	blood:	n/a	n/a
45	CTCF	chr1:225440960-225441110	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr1:225441040-225441190	GM12867	blood:	n/a	n/a
47	CTCF	chr1:225441000-225441150	GM12873	blood:	n/a	n/a
48	CTCF	chr1:225441060-225441210	HMF	breast:	n/a	n/a
49	CTCF	chr1:225441040-225441190	GM06990	blood:	n/a	n/a
50	CTCF	chr1:225441000-225441150	HPAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225427173-225427223	Hepatocyte	liver:	n/a
2	chr1:225427173-225427223	K562	blood:	n/a
3	chr1:225427173-225427223	ECC-1	luminal epithelium:	n/a
4	chr1:225427173-225427223	HCM	heart:	n/a
5	chr1:225427173-225427223	CMK	blood:	n/a
6	chr1:225427173-225427223	GM06990	blood:	n/a
7	chr1:225427173-225427223	GM12892	blood:	n/a
8	chr1:225427173-225427223	AG04450	lung:	fetal
9	chr1:225427173-225427223	HRE	kidney:	n/a
10	chr1:225427173-225427223	SK-N-MC	brain:	n/a
11	chr1:225427173-225427223	Hela-S3	cervix:	n/a
12	chr1:225427173-225427223	HL-60	blood:	n/a
13	chr1:225427173-225427223	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:225427173-225427223	NHBE	bronchial:	n/a
15	chr1:225427173-225427223	U87	brain:	n/a
16	chr1:225427173-225427223	Caco-2	colon:	n/a
17	chr1:225427173-225427223	IMR90	lung:	fetal
18	chr1:225427173-225427223	GM12878	blood:	n/a
19	chr1:225427173-225427223	AG09309	skin:	n/a
20	chr1:225427173-225427223	SKMC	muscle:	n/a
21	chr1:225427173-225427223	HUVEC	blood vessel:	n/a
22	chr1:225427173-225427223	SK-N-SH_RA	brain:	n/a
23	chr1:225427173-225427223	RPTEC	kidney:	n/a
24	chr1:225427173-225427223	HRCEpiC	kidney:	n/a
25	chr1:225427173-225427223	HCT-116	colon:	n/a
26	chr1:225427173-225427223	MCF10A-Er-Src	breast:	n/a
27	chr1:225427173-225427223	NT2-D1	testis:	n/a
28	chr1:225427173-225427223	AG09319	gingival:	n/a
29	chr1:225427173-225427223	AG04449	skin:	fetal
30	chr1:225427173-225427223	Jurkat	blood:	n/a
31	chr1:225427173-225427223	T-47D	breast:	n/a
32	chr1:225427173-225427223	A549	lung:	n/a
33	chr1:225427173-225427223	AoSMC	blood vessel:	n/a
34	chr1:225427173-225427223	PFSK-1	brain:	n/a
35	chr1:225427173-225427223	BJ	skin:	n/a
36	chr1:225427173-225427223	HEK293	kidney:	embryo
37	chr1:225427173-225427223	H1-hESC	embryonic stem cell:	embryo
38	chr1:225427173-225427223	HCPEpiC	choroid plexus:	n/a
39	chr1:225427173-225427223	PrEC	prostate:	n/a
40	chr1:225427173-225427223	LNCaP	prostate:	n/a
41	chr1:225427173-225427223	HRPEpiC	eye:	n/a
42	chr1:225427173-225427223	SAEC	small airway:	n/a
43	chr1:225427173-225427223	GM12891	blood:	n/a
44	chr1:225427173-225427223	ProgFib	skin:	n/a
45	chr1:225427173-225427223	PANC-1	pancreas:	n/a
46	chr1:225427173-225427223	MCF-7	breast:	n/a
47	chr1:225427173-225427223	HEEpiC	esophagus:	n/a
48	chr1:225427173-225427223	NB4	blood:	n/a
49	chr1:225427173-225427223	HAEpiC	amniotic membrane:	n/a
50	chr1:225427173-225427223	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
DNAH14	TF binding region
DNAH14	CpG island

Extended variants
information (count: 1511 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1511 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12733733	chr1:225390933-225390934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544700814	chr1:225390957-225390958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560060256	chr1:225391053-225391054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183251234	chr1:225391057-225391058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146121008	chr1:225391060-225391061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567367502	chr1:225391071-225391072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531579054	chr1:225391084-225391085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12734083	chr1:225391113-225391114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78485623	chr1:225391120-225391121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571571059	chr1:225391150-225391151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538894518	chr1:225391159-225391160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1480109	chr1:225391176-225391177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140155463	chr1:225391180-225391181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533916980	chr1:225391201-225391202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141672345	chr1:225391246-225391247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573785634	chr1:225391285-225391286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544411124	chr1:225391292-225391293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76198929	chr1:225391310-225391311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187876895	chr1:225391313-225391314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578198952	chr1:225391321-225391322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150545830	chr1:225391324-225391325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560603099	chr1:225391341-225391342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527329117	chr1:225391355-225391356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9803691	chr1:225391396-225391397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560977323	chr1:225391435-225391436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139524824	chr1:225391464-225391465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538537649	chr1:225391513-225391514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566109336	chr1:225391536-225391537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34692378	chr1:225391537-225391538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398050132	chr1:225391545-225391546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571388837	chr1:225391548-225391549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532194694	chr1:225391549-225391550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547700347	chr1:225391577-225391578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565834833	chr1:225391597-225391598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534240207	chr1:225391629-225391630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534685942	chr1:225391838-225391839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555302950	chr1:225391864-225391865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567424992	chr1:225391865-225391866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149659852	chr1:225391871-225391872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556223761	chr1:225391886-225391887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373487478	chr1:225391912-225391913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192601701	chr1:225391923-225391924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148326046	chr1:225391951-225391952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538853092	chr1:225391974-225391975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554487287	chr1:225391977-225391978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201605831	chr1:225391979-225391980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147772852	chr1:225392068-225392069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16844455	chr1:225392081-225392082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369099318	chr1:225392106-225392107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560836304	chr1:225392108-225392109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225390800-225395600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:225391400-225392800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225391600-225395400	Weak transcription	Ovary	ovary
4	chr1:225392400-225396200	Weak transcription	Liver	Liver
5	chr1:225392800-225393000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:225392800-225393000	ZNF genes & repeats	Pancreas	Pancrea
7	chr1:225393000-225397400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225393000-225397400	Weak transcription	Pancreas	Pancrea
9	chr1:225395200-225399200	Enhancers	HepG2	liver
10	chr1:225395400-225395600	ZNF genes & repeats	Ovary	ovary
11	chr1:225395600-225396200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr1:225395600-225397400	Weak transcription	Ovary	ovary
13	chr1:225397400-225397800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:225397400-225397800	ZNF genes & repeats	Pancreas	Pancrea
15	chr1:225397400-225398000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:225397400-225398000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr1:225397400-225398000	Strong transcription	Ovary	ovary
18	chr1:225397600-225398000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:225398000-225400000	Weak transcription	Ovary	ovary
20	chr1:225398000-225404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:225398000-225417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:225404800-225406000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:225405200-225405600	ZNF genes & repeats	Pancreas	Pancrea
24	chr1:225405400-225406600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:225406600-225409400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:225409400-225410000	Enhancers	HepG2	liver
27	chr1:225409400-225411600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:225410000-225415200	Weak transcription	HepG2	liver
29	chr1:225411200-225412800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:225411600-225413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:225412400-225412600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:225412400-225412800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:225412400-225414000	Enhancers	Placenta	Placenta
34	chr1:225412600-225413200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225412800-225413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:225412800-225414600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:225413200-225414200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:225413600-225413800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:225413600-225414000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:225414000-225415800	Weak transcription	Placenta	Placenta
41	chr1:225414000-225416000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:225414200-225415200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:225414600-225414800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:225414800-225415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:225415200-225416600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:225415200-225417200	Enhancers	HepG2	liver
47	chr1:225415800-225417000	Enhancers	Placenta	Placenta
48	chr1:225416000-225416200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:225416000-225416600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:225416600-225417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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