Variant report

Variant	nsv892328
Chromosome Location	chr9:10678556-10856892
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	BACH1	chr9:10731396-10731463	K562	blood:	n/a	n/a
2	CEBPB	chr9:10843733-10844029	HepG2	liver:	n/a	chr9:10843883-10843894
3	CEBPB	chr9:10789715-10790204	HepG2	liver:	n/a	chr9:10790076-10790087
4	CEBPB	chr9:10800986-10801148	HepG2	liver:	n/a	chr9:10801096-10801107
5	CEBPB	chr9:10807377-10807659	IMR90	lung:	n/a	chr9:10807516-10807527 chr9:10807518-10807527 chr9:10807518-10807529 chr9:10807516-10807529
6	CEBPB	chr9:10807335-10807671	HepG2	liver:	n/a	chr9:10807516-10807527 chr9:10807518-10807527 chr9:10807518-10807529 chr9:10807516-10807529
7	CEBPB	chr9:10838394-10838591	HepG2	liver:	n/a	chr9:10838508-10838519
8	CEBPB	chr9:10831699-10831969	HepG2	liver:	n/a	n/a
9	CEBPB	chr9:10678846-10679125	IMR90	lung:	n/a	n/a
10	CHD2	chr9:10697250-10697363	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr9:10856000-10856150	RPTEC	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
12	CTCF	chr9:10856000-10856150	HCPEpiC	choroid plexus:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
13	CTCF	chr9:10855931-10856175	T-47D	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
14	CTCF	chr9:10855958-10856143	SK-N-SH_RA	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
15	CTCF	chr9:10855960-10856110	HRPEpiC	eye:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
16	CTCF	chr9:10855960-10856110	NB4	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
17	CTCF	chr9:10855939-10856154	LNCaP	prostate:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
18	CTCF	chr9:10855920-10856070	HCM	heart:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
19	CTCF	chr9:10704820-10704970	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr9:10856020-10856170	HEK293	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
21	CTCF	chr9:10855980-10856130	HBMEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
22	CTCF	chr9:10855980-10856130	HRPEpiC	eye:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
23	CTCF	chr9:10855940-10856090	SAEC	small airway:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
24	CTCF	chr9:10856040-10856190	MCF-7	breast:	n/a	n/a
25	CTCF	chr9:10855920-10856070	WERI-Rb-1	eye:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
26	CTCF	chr9:10855960-10856110	HRE	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
27	CTCF	chr9:10855980-10856130	HMEC	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
28	CTCF	chr9:10855060-10855210	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr9:10855899-10856197	HUVEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
30	CTCF	chr9:10855700-10855850	HCM	heart:	n/a	n/a
31	CTCF	chr9:10855980-10856130	AoAF	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
32	CTCF	chr9:10856000-10856150	HMF	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
33	CTCF	chr9:10855660-10855810	HMF	breast:	n/a	n/a
34	CTCF	chr9:10856000-10856150	HBMEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
35	CTCF	chr9:10855940-10856090	HUVEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
36	CTCF	chr9:10855934-10856158	LNCaP	prostate:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
37	CTCF	chr9:10855847-10856254	H1-hESC	embryonic stem cell:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
38	CTCF	chr9:10743296-10743366	GM13976	blood:	n/a	n/a
39	CTCF	chr9:10855677-10856427	SK-N-SH	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
40	CTCF	chr9:10855989-10856110	HepG2	liver:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
41	CTCF	chr9:10744291-10744351	GM13976	blood:	n/a	n/a
42	CTCF	chr9:10855980-10856130	HAc	cerebellar:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
43	CTCF	chr9:10856100-10856250	A549	lung:	n/a	n/a
44	CTCF	chr9:10855980-10856130	HEEpiC	esophagus:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
45	CTCF	chr9:10855960-10856110	GM12873	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
46	CTCF	chr9:10856032-10856091	NHEK	skin:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
47	CTCF	chr9:10855965-10856144	Gliobla	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
48	CTCF	chr9:10855990-10856072	GM13977	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
49	CTCF	chr9:10856020-10856170	HMF	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
50	CTCF	chr9:10855968-10856128	MCF-7	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047

No.	Distal block	Cell Line	Cell type
1	chr9:10800011..10802927-chr9:10803312..10805681,2	K562	blood:
2	chr9:10697506..10699235-chr9:10701323..10703741,2	K562	blood:
3	chr9:10855837..10856356-chr9:11319207..11319905,2	MCF-7	breast:
4	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
5	chr9:10697506..10699235-chr9:10701323..10703741,2	K562	blood:
6	chr9:10855589..10857004-chr9:11319142..11320476,6	MCF-7	breast:
7	chr9:10799917..10802612-chr9:10809081..10811192,2	K562	blood:
8	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:
9	chr9:10799917..10802612-chr9:10809081..10811192,2	K562	blood:
10	chr9:10800011..10802927-chr9:10803312..10805681,2	K562	blood:

Variant related genes	Relation type
ENSG00000227138	TF binding region
IMP3P1	TF binding region

Extended variants
information (count: 1387 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1387 , 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	rs4992817	chr9:10678556-10678557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568090323	chr9:10678559-10678560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150051309	chr9:10678560-10678561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147310580	chr9:10678569-10678570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183974047	chr9:10678585-10678586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4543596	chr9:10678613-10678614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527475964	chr9:10678620-10678621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547904831	chr9:10678631-10678632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570835693	chr9:10678635-10678636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533387000	chr9:10678639-10678640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145000939	chr9:10678692-10678693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3893294	chr9:10678714-10678715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536111115	chr9:10678732-10678733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576467522	chr9:10678735-10678736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549686803	chr9:10678744-10678745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566309570	chr9:10678796-10678797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534881172	chr9:10678800-10678801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10756095	chr9:10678836-10678837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187792698	chr9:10678861-10678862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144908973	chr9:10678886-10678887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149108441	chr9:10678896-10678897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192927203	chr9:10678900-10678901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541763209	chr9:10678915-10678916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561633748	chr9:10678963-10678964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571939187	chr9:10678965-10678966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73642052	chr9:10678997-10678998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568898825	chr9:10685616-10685617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7027157	chr9:10685618-10685619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372243950	chr9:10685661-10685662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111404623	chr9:10685669-10685670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182894608	chr9:10685676-10685677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574995140	chr9:10685686-10685687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114827192	chr9:10685696-10685697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73404104	chr9:10685697-10685698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187574892	chr9:10685709-10685710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62540777	chr9:10685715-10685716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377057631	chr9:10685716-10685717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545116487	chr9:10685720-10685721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368390133	chr9:10685723-10685724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530496605	chr9:10685751-10685752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73404105	chr9:10685762-10685763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs79928859	chr9:10685778-10685779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529920357	chr9:10685826-10685827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546429917	chr9:10685836-10685837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560220936	chr9:10685838-10685839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568541128	chr9:10685856-10685857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532507811	chr9:10685942-10685943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552247429	chr9:10685953-10685954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568947481	chr9:10685957-10685958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537816795	chr9:10685966-10685967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10678400-10679000	Enhancers	NH-A	brain
2	chr9:10685600-10686400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr9:10686600-10687800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:10687200-10688000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:10687400-10688000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:10687400-10688000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:10696200-10697200	Enhancers	HepG2	liver
8	chr9:10699600-10700600	Enhancers	Stomach Mucosa	stomach
9	chr9:10700400-10700800	Enhancers	NH-A	brain
10	chr9:10700600-10701000	Weak transcription	Stomach Mucosa	stomach
11	chr9:10701000-10701600	Enhancers	Stomach Mucosa	stomach
12	chr9:10701600-10704400	Weak transcription	Stomach Mucosa	stomach
13	chr9:10704400-10707400	Enhancers	Stomach Mucosa	stomach
14	chr9:10704600-10705000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:10704600-10705000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:10704600-10705200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:10704600-10707600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:10729200-10729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:10729400-10729800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:10749000-10749600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:10761800-10762400	Enhancers	Fetal Brain Male	brain
22	chr9:10762200-10764800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:10762400-10764200	Weak transcription	Fetal Brain Male	brain
24	chr9:10762600-10763000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:10764200-10765200	Enhancers	Fetal Brain Male	brain
26	chr9:10773000-10775000	Enhancers	Fetal Brain Female	brain
27	chr9:10773200-10774400	Enhancers	Fetal Lung	lung
28	chr9:10773400-10773800	Enhancers	Fetal Brain Male	brain
29	chr9:10775600-10775800	Enhancers	Fetal Brain Male	brain
30	chr9:10790200-10790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:10790400-10791600	ZNF genes & repeats	Pancreas	Pancrea
32	chr9:10804200-10804800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:10804400-10804800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:10804600-10805000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:10804600-10805000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:10804800-10806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:10805000-10806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:10806400-10807200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:10806600-10806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:10806800-10807200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:10807000-10807400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:10807200-10808000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:10808000-10809000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:10808400-10808800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:10812600-10813000	Enhancers	Fetal Brain Male	brain
46	chr9:10829800-10830000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:10829800-10830200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:10833400-10834200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:10836000-10836400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:10836200-10836400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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