Variant report

Variant	esv2753276
Chromosome Location	chr9:9762533-9799050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:9790306-9790512	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:9790315-9790593	GM12878	blood:	n/a	n/a
3	BRCA1	chr9:9790311-9790476	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:9781774-9781789	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:9791760-9791910	AG09319	gingival:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
6	CTCF	chr9:9790380-9790530	HL-60	blood:	n/a	chr9:9790450-9790458
7	CTCF	chr9:9790400-9790550	HMF	breast:	n/a	chr9:9790450-9790458
8	CTCF	chr9:9790329-9790576	GM10266	blood:	n/a	chr9:9790450-9790458
9	CTCF	chr9:9790380-9790530	HVMF	connective:	n/a	chr9:9790450-9790458
10	CTCF	chr9:9790380-9790530	GM12865	blood:	n/a	chr9:9790450-9790458
11	CTCF	chr9:9790337-9790563	HepG2	liver:	n/a	chr9:9790450-9790458
12	CTCF	chr9:9791687-9791914	H1-hESC	embryonic stem cell:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
13	CTCF	chr9:9790380-9790530	GM12866	blood:	n/a	chr9:9790450-9790458
14	CTCF	chr9:9790420-9790570	HPAF	blood vessel:	n/a	chr9:9790450-9790458
15	CTCF	chr9:9790360-9790510	HRPEpiC	eye:	n/a	chr9:9790450-9790458
16	CTCF	chr9:9790326-9790574	LNCaP	prostate:	n/a	chr9:9790450-9790458
17	CTCF	chr9:9790380-9790530	BJ	skin:	n/a	chr9:9790450-9790458
18	CTCF	chr9:9790360-9790510	AG09319	gingival:	n/a	chr9:9790450-9790458
19	CTCF	chr9:9790300-9790450	GM12875	blood:	n/a	n/a
20	CTCF	chr9:9790340-9790490	GM12874	blood:	n/a	chr9:9790450-9790458
21	CTCF	chr9:9790246-9790633	T-47D	breast:	n/a	chr9:9790450-9790458
22	CTCF	chr9:9791740-9791890	HA-sp	spinal cord:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
23	CTCF	chr9:9790361-9790418	MCF-7	breast:	n/a	n/a
24	CTCF	chr9:9790380-9790530	GM12870	blood:	n/a	chr9:9790450-9790458
25	CTCF	chr9:9790263-9790511	H1-hESC	embryonic stem cell:	n/a	chr9:9790450-9790458
26	CTCF	chr9:9790340-9790490	HCM	heart:	n/a	chr9:9790450-9790458
27	CTCF	chr9:9790360-9790510	GM12873	blood:	n/a	chr9:9790450-9790458
28	CTCF	chr9:9790220-9790370	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr9:9791740-9791890	NB4	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
30	CTCF	chr9:9791760-9791910	HUVEC	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
31	CTCF	chr9:9790400-9790497	MCF-7	breast:	n/a	chr9:9790450-9790458
32	CTCF	chr9:9790400-9790550	BE2_C	brain:	n/a	chr9:9790450-9790458
33	CTCF	chr9:9790400-9790550	HCT-116	colon:	n/a	chr9:9790450-9790458
34	CTCF	chr9:9790360-9790510	NHLF	lung:	n/a	chr9:9790450-9790458
35	CTCF	chr9:9790302-9790595	Medullo	brain:	n/a	chr9:9790450-9790458
36	CTCF	chr9:9790400-9790550	GM12801	blood:	n/a	chr9:9790450-9790458
37	CTCF	chr9:9790380-9790530	GM12875	blood:	n/a	chr9:9790450-9790458
38	CTCF	chr9:9791828-9791906	GM10266	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
39	CTCF	chr9:9790340-9790490	GM12869	blood:	n/a	chr9:9790450-9790458
40	CTCF	chr9:9790360-9790510	BJ	skin:	n/a	chr9:9790450-9790458
41	CTCF	chr9:9790360-9790510	SK-N-SH_RA	brain:	n/a	chr9:9790450-9790458
42	CTCF	chr9:9790380-9790530	AG10803	skin:	n/a	chr9:9790450-9790458
43	CTCF	chr9:9790380-9790530	HMEC	breast:	n/a	chr9:9790450-9790458
44	CTCF	chr9:9790500-9790650	HFF	foreskin:	n/a	n/a
45	CTCF	chr9:9790380-9790530	HPF	lung:	n/a	chr9:9790450-9790458
46	CTCF	chr9:9790400-9790550	GM12864	blood:	n/a	chr9:9790450-9790458
47	CTCF	chr9:9790320-9790521	HepG2	liver:	n/a	chr9:9790450-9790458
48	CTCF	chr9:9791754-9791957	MCF-7	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
49	CTCF	chr9:9791742-9791962	Medullo	brain:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
50	CTCF	chr9:9790340-9790561	GM10248	blood:	n/a	chr9:9790450-9790458

No.	Distal block	Cell Line	Cell type
1	chr9:9751206..9753342-chr9:9765211..9766880,2	MCF-7	breast:
2	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:
3	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:
4	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:
5	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230920	TF binding region

Extended variants
information (count: 1393 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374066428	chr9:9764823-9764824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530758090	chr9:9764840-9764841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2821512	chr9:9764875-9764876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187885815	chr9:9764936-9764937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112225704	chr9:9764949-9764950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139807131	chr9:9764951-9764952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141577182	chr9:9764958-9764959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192528799	chr9:9764962-9764963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370619165	chr9:9764974-9764975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538060918	chr9:9764991-9764992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373188707	chr9:9765010-9765011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529352024	chr9:9765021-9765022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541546277	chr9:9765044-9765045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553397180	chr9:9765054-9765055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184307378	chr9:9765076-9765077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189257224	chr9:9765078-9765079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192769519	chr9:9765127-9765128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532664608	chr9:9765135-9765136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562660428	chr9:9765146-9765147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77960325	chr9:9765179-9765180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139422413	chr9:9765228-9765229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530253207	chr9:9765236-9765237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57689460	chr9:9765237-9765238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566926059	chr9:9765246-9765247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1174584	chr9:9765250-9765251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552573446	chr9:9765258-9765259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149922513	chr9:9765281-9765282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188698381	chr9:9765286-9765287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551847172	chr9:9765323-9765324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568154247	chr9:9765326-9765327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112792254	chr9:9765364-9765365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553458598	chr9:9765373-9765374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571773964	chr9:9765374-9765375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74564805	chr9:9765383-9765384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185868834	chr9:9765419-9765420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2252243	chr9:9765424-9765425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544566234	chr9:9765447-9765448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563142793	chr9:9765459-9765460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574939256	chr9:9765514-9765515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2252236	chr9:9765537-9765538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560586461	chr9:9765580-9765581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189157695	chr9:9765602-9765603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16930254	chr9:9765648-9765649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181942420	chr9:9765683-9765684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145014430	chr9:9765684-9765685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536296170	chr9:9765692-9765693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112195225	chr9:9765707-9765708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568303034	chr9:9765737-9765738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537522855	chr9:9765746-9765747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535282346	chr9:9765752-9765753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Schizophrenia	23813976	CNVD
Nasopharyngeal cancer	20548289	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9764800-9765000	Enhancers	Aorta	Aorta
2	chr9:9765000-9778800	Weak transcription	Aorta	Aorta
3	chr9:9775400-9776200	Enhancers	HUVEC	blood vessel
4	chr9:9776200-9776600	Flanking Active TSS	HUVEC	blood vessel
5	chr9:9776200-9776800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:9776600-9779000	Enhancers	HUVEC	blood vessel
7	chr9:9778400-9778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:9778400-9778800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:9779000-9782000	Weak transcription	HUVEC	blood vessel
10	chr9:9779400-9780000	Enhancers	NH-A	brain
11	chr9:9782000-9784000	Enhancers	HUVEC	blood vessel
12	chr9:9782600-9784000	Enhancers	Brain Angular Gyrus	brain
13	chr9:9782800-9783400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:9783400-9783800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr9:9783600-9784000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:9783800-9784600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:9784600-9786000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:9786000-9786200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:9789200-9789400	Enhancers	Liver	Liver
20	chr9:9790000-9790400	Enhancers	Dnd41	blood
21	chr9:9790200-9790400	Enhancers	Liver	Liver
22	chr9:9791400-9793000	Enhancers	Primary B cells from cord blood	blood
23	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:9792200-9792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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