Variant report

Variant	nsv892282
Chromosome Location	chr9:9790403-9798092
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	CTCF	chr9:9790274-9790522	T-47D	breast:	n/a	chr9:9790450-9790458
5	CTCF	chr9:9790320-9790576	ECC-1	luminal epithelium:	n/a	chr9:9790450-9790458
6	CTCF	chr9:9791788-9791955	LNCaP	prostate:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
7	CTCF	chr9:9791623-9792177	SK-N-SH	brain:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
8	CTCF	chr9:9791800-9791950	HVMF	connective:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
9	CTCF	chr9:9791780-9791930	HA-sp	spinal cord:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
10	CTCF	chr9:9790360-9790510	GM12870	blood:	n/a	chr9:9790450-9790458
11	CTCF	chr9:9790316-9790569	MCF-7	breast:	n/a	chr9:9790450-9790458
12	CTCF	chr9:9791827-9791882	GM10248	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
13	CTCF	chr9:9791620-9791770	GM06990	blood:	n/a	n/a
14	CTCF	chr9:9791780-9791930	NHEK	skin:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
15	CTCF	chr9:9791780-9791930	HPAF	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
16	CTCF	chr9:9790380-9790530	HPF	lung:	n/a	chr9:9790450-9790458
17	CTCF	chr9:9790380-9790530	HMEC	breast:	n/a	chr9:9790450-9790458
18	CTCF	chr9:9791700-9791850	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr9:9790380-9790530	AoAF	blood vessel:	n/a	chr9:9790450-9790458
20	CTCF	chr9:9791760-9791910	HMEC	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
21	CTCF	chr9:9790285-9790614	K562	blood:	n/a	chr9:9790450-9790458
22	CTCF	chr9:9791860-9792010	MCF-7	breast:	n/a	n/a
23	CTCF	chr9:9790340-9790490	GM12878	blood:	n/a	chr9:9790450-9790458
24	CTCF	chr9:9790380-9790530	HRPEpiC	eye:	n/a	chr9:9790450-9790458
25	CTCF	chr9:9790380-9790530	HMF	breast:	n/a	chr9:9790450-9790458
26	CTCF	chr9:9790360-9790510	GM12874	blood:	n/a	chr9:9790450-9790458
27	CTCF	chr9:9791740-9791890	NB4	blood:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
28	CTCF	chr9:9791786-9791905	Kidney_OC	kidney:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
29	CTCF	chr9:9790380-9790530	HFF-Myc	foreskin:	n/a	chr9:9790450-9790458
30	CTCF	chr9:9790380-9790530	HL-60	blood:	n/a	chr9:9790450-9790458
31	CTCF	chr9:9790369-9790534	GM13976	blood:	n/a	chr9:9790450-9790458
32	CTCF	chr9:9790340-9790490	HCM	heart:	n/a	chr9:9790450-9790458
33	CTCF	chr9:9790360-9790510	NHDF-neo	bronchial:	n/a	chr9:9790450-9790458
34	CTCF	chr9:9790380-9790530	GM12872	blood:	n/a	chr9:9790450-9790458
35	CTCF	chr9:9790330-9790461	GM19238	blood:	n/a	chr9:9790450-9790458
36	CTCF	chr9:9791900-9792050	HRE	kidney:	n/a	n/a
37	CTCF	chr9:9790380-9790530	HVMF	connective:	n/a	chr9:9790450-9790458
38	CTCF	chr9:9790380-9790530	K562	blood:	n/a	chr9:9790450-9790458
39	CTCF	chr9:9790380-9790530	HBMEC	blood vessel:	n/a	chr9:9790450-9790458
40	CTCF	chr9:9790315-9790600	HUVEC	blood vessel:	n/a	chr9:9790450-9790458
41	CTCF	chr9:9790340-9790490	GM12864	blood:	n/a	chr9:9790450-9790458
42	CTCF	chr9:9790380-9790530	GM12875	blood:	n/a	chr9:9790450-9790458
43	CTCF	chr9:9791720-9791870	HUVEC	blood vessel:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
44	CTCF	chr9:9790340-9790490	GM12869	blood:	n/a	chr9:9790450-9790458
45	CTCF	chr9:9790400-9790550	BE2_C	brain:	n/a	chr9:9790450-9790458
46	CTCF	chr9:9790214-9790555	H1-hESC	embryonic stem cell:	n/a	chr9:9790450-9790458
47	CTCF	chr9:9790360-9790510	MCF-7	breast:	n/a	chr9:9790450-9790458
48	CTCF	chr9:9790141-9790804	SK-N-SH	brain:	n/a	chr9:9790450-9790458
49	CTCF	chr9:9791780-9791930	HMEC	breast:	n/a	chr9:9791839-9791860 chr9:9791844-9791862
50	CTCF	chr9:9790420-9790570	HEEpiC	esophagus:	n/a	chr9:9790450-9790458

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

Variant related genes	Relation type
ENSG00000230920	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115736576	chr9:9791413-9791414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114185487	chr9:9791416-9791417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181354305	chr9:9791417-9791418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145357989	chr9:9791444-9791445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541004973	chr9:9791447-9791448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147737163	chr9:9791495-9791496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536300521	chr9:9791515-9791516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563941860	chr9:9791518-9791519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12554613	chr9:9791522-9791523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566891171	chr9:9791527-9791528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185812557	chr9:9791532-9791533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533224494	chr9:9791543-9791544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539219258	chr9:9791603-9791604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559222858	chr9:9791608-9791609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570174196	chr9:9791610-9791611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146912107	chr9:9791635-9791636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544931305	chr9:9791640-9791641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556638711	chr9:9791652-9791653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113197358	chr9:9791677-9791678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573580420	chr9:9791682-9791683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542300613	chr9:9791699-9791700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190575372	chr9:9791700-9791701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528204393	chr9:9791707-9791708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371424177	chr9:9791746-9791747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183181877	chr9:9791784-9791785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544779240	chr9:9791785-9791786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71497157	chr9:9791788-9791789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16930328	chr9:9791791-9791792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76596917	chr9:9791799-9791800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549809441	chr9:9791810-9791811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115081328	chr9:9791881-9791882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550462799	chr9:9791925-9791926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569656649	chr9:9791952-9791953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138884765	chr9:9791964-9791965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188764787	chr9:9791982-9791983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546710369	chr9:9791999-9792000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566934940	chr9:9792029-9792030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192327044	chr9:9792065-9792066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552770450	chr9:9792075-9792076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569478053	chr9:9792095-9792096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538489037	chr9:9792107-9792108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78267037	chr9:9792124-9792125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397894576	chr9:9792130-9792131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376289451	chr9:9792131-9792132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115847783	chr9:9792132-9792133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144573462	chr9:9792145-9792146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536224476	chr9:9792175-9792176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148992004	chr9:9792180-9792181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551681135	chr9:9792202-9792203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373779671	chr9:9792236-9792237	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	21611746	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9791400-9793000	Enhancers	Primary B cells from cord blood	blood
2	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells	blood
3	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:9792000-9792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:9792200-9792800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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