Variant report

Variant	nsv892317
Chromosome Location	chr9:10427780-10531641
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	chr9:10434055-10434089	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:10523193-10523241	HepG2	liver:	n/a	chr9:10523228-10523239 chr9:10523226-10523237 chr9:10523226-10523239 chr9:10523228-10523239 chr9:10523226-10523239
3	CEBPB	chr9:10502012-10502198	HepG2	liver:	n/a	chr9:10502076-10502087
4	CEBPB	chr9:10512172-10512513	A549	lung:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
5	CEBPB	chr9:10512160-10512530	IMR90	lung:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
6	CEBPB	chr9:10464897-10465142	IMR90	lung:	n/a	n/a
7	CEBPB	chr9:10447962-10448204	H1-hESC	embryonic stem cell:	n/a	chr9:10448100-10448111
8	CEBPB	chr9:10512220-10512514	H1-hESC	embryonic stem cell:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
9	CEBPB	chr9:10512167-10512523	HepG2	liver:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
10	CEBPB	chr9:10448014-10448202	K562	blood:	n/a	chr9:10448100-10448111
11	CEBPB	chr9:10512234-10512477	K562	blood:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
12	CEBPB	chr9:10504394-10504660	A549	lung:	n/a	chr9:10504502-10504514
13	CEBPB	chr9:10433949-10434113	HepG2	liver:	n/a	chr9:10434019-10434032 chr9:10434019-10434032 chr9:10434020-10434031
14	CEBPB	chr9:10455088-10455277	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr9:10447965-10448279	HepG2	liver:	n/a	chr9:10448100-10448111
16	CTCF	chr9:10479300-10479450	HCFaa	heart:	n/a	chr9:10479399-10479408
17	CTCF	chr9:10479040-10479190	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr9:10479715-10479795	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr9:10479240-10479390	GM12874	blood:	n/a	n/a
20	CTCF	chr9:10479370-10479504	K562	blood:	n/a	chr9:10479399-10479408
21	CTCF	chr9:10479384-10479426	K562	blood:	n/a	chr9:10479399-10479408
22	CTCF	chr9:10479300-10479450	WI-38	lung:	n/a	chr9:10479399-10479408
23	CTCF	chr9:10479280-10479430	GM12875	blood:	n/a	chr9:10479399-10479408
24	CTCF	chr9:10526080-10526230	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr9:10479252-10479450	GM12878	blood:	n/a	chr9:10479399-10479408
26	CTCF	chr9:10479362-10479475	Hela-S3	cervix:	n/a	chr9:10479399-10479408
27	CTCF	chr9:10479357-10479481	Gliobla	brain:	n/a	chr9:10479399-10479408
28	CTCF	chr9:10526020-10526170	NB4	blood:	n/a	n/a
29	CTCF	chr9:10479360-10479510	RPTEC	kidney:	n/a	chr9:10479399-10479408
30	CTCF	chr9:10479340-10479490	GM12868	blood:	n/a	chr9:10479399-10479408
31	CTCF	chr9:10479280-10479430	HAc	cerebellar:	n/a	chr9:10479399-10479408
32	CTCF	chr9:10479280-10479430	AoAF	blood vessel:	n/a	chr9:10479399-10479408
33	CTCF	chr9:10479340-10479490	NB4	blood:	n/a	chr9:10479399-10479408
34	CTCF	chr9:10479380-10479530	HCT-116	colon:	n/a	chr9:10479399-10479408
35	CTCF	chr9:10479320-10479470	BJ	skin:	n/a	chr9:10479399-10479408
36	CTCF	chr9:10479360-10479510	HRPEpiC	eye:	n/a	chr9:10479399-10479408
37	CTCF	chr9:10479260-10479410	HMEC	breast:	n/a	chr9:10479399-10479408
38	CTCF	chr9:10479320-10479470	HMF	breast:	n/a	chr9:10479399-10479408
39	CTCF	chr9:10479300-10479450	GM12864	blood:	n/a	chr9:10479399-10479408
40	CTCF	chr9:10526120-10526270	HMF	breast:	n/a	n/a
41	CTCF	chr9:10479320-10479470	GM12870	blood:	n/a	chr9:10479399-10479408
42	CTCF	chr9:10479380-10479530	SAEC	small airway:	n/a	chr9:10479399-10479408
43	CTCF	chr9:10479260-10479410	NHEK	skin:	n/a	chr9:10479399-10479408
44	CTCF	chr9:10526020-10526170	HRE	kidney:	n/a	n/a
45	CTCF	chr9:10479340-10479490	GM12865	blood:	n/a	chr9:10479399-10479408
46	CTCF	chr9:10479300-10479450	GM12874	blood:	n/a	chr9:10479399-10479408
47	CTCF	chr9:10479320-10479470	HEK293	kidney:	n/a	chr9:10479399-10479408
48	CTCF	chr9:10479300-10479450	GM12875	blood:	n/a	chr9:10479399-10479408
49	CTCF	chr9:10479191-10479638	SK-N-SH	brain:	n/a	chr9:10479399-10479408
50	CTCF	chr9:10479280-10479430	HL-60	blood:	n/a	chr9:10479399-10479408

No.	Distal block	Cell Line	Cell type
1	chr2:145089819..145090468-chr9:10441934..10442434,2	NB4	blood:
2	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:
3	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234360	TF binding region
ENSG00000121964	chromatin interactions

Extended variants
information (count: 868 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557395794	chr9:10434038-10434039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574362182	chr9:10434058-10434059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148271501	chr9:10434117-10434118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190469108	chr9:10434156-10434157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560031438	chr9:10434167-10434168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79121938	chr9:10434211-10434212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545632317	chr9:10434217-10434218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564978732	chr9:10434218-10434219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563831610	chr9:10434219-10434220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587729	chr9:10434220-10434221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183039535	chr9:10434223-10434224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562964306	chr9:10434239-10434240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113892359	chr9:10434248-10434249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188956103	chr9:10434262-10434263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562851325	chr9:10434264-10434265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572869922	chr9:10434305-10434306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548990277	chr9:10434323-10434324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35516972	chr9:10434324-10434325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565992500	chr9:10434328-10434329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147012113	chr9:10434342-10434343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111972654	chr9:10434345-10434346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530175861	chr9:10434374-10434375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10115737	chr9:10434419-10434420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571723371	chr9:10434493-10434494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201672315	chr9:10434544-10434545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138064655	chr9:10434577-10434578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546859865	chr9:10434585-10434586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10121955	chr9:10434614-10434615	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143654903	chr9:10434656-10434657	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs112515407	chr9:10434693-10434694	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs192021582	chr9:10434703-10434704	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs575266408	chr9:10434793-10434794	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs79319712	chr9:10434798-10434799	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs140018736	chr9:10434833-10434834	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs372589819	chr9:10434855-10434856	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs544249996	chr9:10434856-10434857	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs115721284	chr9:10434865-10434866	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs590507	chr9:10434882-10434883	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528860020	chr9:10434897-10434898	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs542652464	chr9:10434925-10434926	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs182777096	chr9:10434931-10434932	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs377062005	chr9:10434950-10434951	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs12347543	chr9:10434956-10434957	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187695085	chr9:10434957-10434958	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs571483318	chr9:10434960-10434961	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs77188158	chr9:10434964-10434965	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs149557587	chr9:10434965-10434966	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs191670324	chr9:10434966-10434967	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs536245750	chr9:10434988-10434989	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs680414	chr9:10434998-10434999	Enhancers Bivalent Enhancer	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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10434000-10434600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:10434000-10434800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:10434000-10435400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:10434000-10435400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:10434200-10435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:10434200-10435400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:10434200-10436000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10434400-10434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:10434600-10435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:10434600-10435200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr9:10434800-10435000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:10434800-10435200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr9:10434800-10435400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:10435000-10435200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr9:10435400-10436400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:10435400-10438800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:10435400-10439000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:10435400-10446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:10436000-10445800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:10436800-10437200	Enhancers	Fetal Brain Female	brain
21	chr9:10437200-10439600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:10438000-10439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:10438800-10439400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:10439000-10439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:10439000-10440000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:10439400-10445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:10439600-10439800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:10439600-10445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:10439800-10445800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:10440000-10440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:10440400-10441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:10443600-10444200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:10445200-10447200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:10445600-10446600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:10445800-10446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:10445800-10447000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:10445800-10447200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr9:10446000-10447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:10446200-10446600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:10446200-10447400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:10446600-10447000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr9:10446600-10447200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:10446600-10447200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:10446600-10447600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:10446800-10447200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:10447000-10447200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:10447000-10447600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr9:10462200-10464200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:10464200-10464400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr9:10464200-10464600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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