Variant report

Variant	nsv972294
Chromosome Location	chr9:7592837-7603037
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	CTCF	chr9:7592760-7592910	GM12878	blood:	n/a	chr9:7592820-7592828
2	CTCF	chr9:7593080-7593230	HEK293	kidney:	n/a	n/a
3	CTCF	chr9:7592720-7592870	HMEC	breast:	n/a	chr9:7592820-7592828
4	CTCF	chr9:7592760-7592910	AoAF	blood vessel:	n/a	chr9:7592820-7592828
5	CTCF	chr9:7592740-7592890	SAEC	small airway:	n/a	chr9:7592820-7592828
6	CTCF	chr9:7592800-7592950	HA-sp	spinal cord:	n/a	chr9:7592820-7592828
7	CTCF	chr9:7593126-7593194	MCF-7	breast:	n/a	n/a
8	CTCF	chr9:7593040-7593190	GM12864	blood:	n/a	n/a
9	CTCF	chr9:7592720-7592870	GM06990	blood:	n/a	chr9:7592820-7592828
10	CTCF	chr9:7592791-7592856	LNCaP	prostate:	n/a	chr9:7592820-7592828
11	CTCF	chr9:7592820-7592970	HUVEC	blood vessel:	n/a	chr9:7592820-7592828
12	CTCF	chr9:7592700-7592850	GM12875	blood:	n/a	chr9:7592820-7592828
13	CTCF	chr9:7592760-7592910	SK-N-SH_RA	brain:	n/a	chr9:7592820-7592828
14	CTCF	chr9:7592760-7592910	HPF	lung:	n/a	chr9:7592820-7592828
15	CTCF	chr9:7592780-7592930	NHEK	skin:	n/a	chr9:7592820-7592828
16	CTCF	chr9:7592760-7592910	MCF-7	breast:	n/a	chr9:7592820-7592828
17	CTCF	chr9:7592740-7592890	BE2_C	brain:	n/a	chr9:7592820-7592828
18	CTCF	chr9:7592720-7592870	GM12870	blood:	n/a	chr9:7592820-7592828
19	CTCF	chr9:7592742-7592922	MCF-7	breast:	n/a	chr9:7592820-7592828
20	CTCF	chr9:7592720-7592870	HRE	kidney:	n/a	chr9:7592820-7592828
21	CTCF	chr9:7592840-7592990	HMF	breast:	n/a	n/a
22	CTCF	chr9:7592720-7592870	Caco-2	colon:	n/a	chr9:7592820-7592828
23	CTCF	chr9:7592760-7592910	GM12869	blood:	n/a	chr9:7592820-7592828
24	CTCF	chr9:7592700-7592850	GM12867	blood:	n/a	chr9:7592820-7592828
25	CTCF	chr9:7592820-7592970	HAc	cerebellar:	n/a	chr9:7592820-7592828
26	CTCF	chr9:7592820-7592970	HMF	breast:	n/a	chr9:7592820-7592828
27	CTCF	chr9:7592760-7592910	HRPEpiC	eye:	n/a	chr9:7592820-7592828
28	CTCF	chr9:7592676-7593021	GM12878	blood:	n/a	chr9:7592820-7592828
29	CTCF	chr9:7592740-7592890	HCFaa	heart:	n/a	chr9:7592820-7592828
30	CTCF	chr9:7592760-7592910	HEK293	kidney:	n/a	chr9:7592820-7592828
31	CTCF	chr9:7592780-7592930	Caco-2	colon:	n/a	chr9:7592820-7592828
32	CTCF	chr9:7592700-7592850	HPAF	blood vessel:	n/a	chr9:7592820-7592828
33	CTCF	chr9:7592740-7592890	GM12874	blood:	n/a	chr9:7592820-7592828
34	CTCF	chr9:7592800-7592950	GM12864	blood:	n/a	chr9:7592820-7592828
35	CTCF	chr9:7592860-7593010	GM06990	blood:	n/a	n/a
36	CTCF	chr9:7593160-7593310	RPTEC	kidney:	n/a	n/a
37	CTCF	chr9:7592760-7592910	GM12873	blood:	n/a	chr9:7592820-7592828
38	CTCF	chr9:7592780-7592930	HEK293	kidney:	n/a	chr9:7592820-7592828
39	CTCF	chr9:7592700-7592850	AoAF	blood vessel:	n/a	chr9:7592820-7592828
40	CTCF	chr9:7593233-7593250	MCF-7	breast:	n/a	n/a
41	CTCF	chr9:7592700-7592850	GM12866	blood:	n/a	chr9:7592820-7592828
42	CTCF	chr9:7592760-7592910	HBMEC	blood vessel:	n/a	chr9:7592820-7592828
43	CTCF	chr9:7592780-7592930	HepG2	liver:	n/a	chr9:7592820-7592828
44	CTCF	chr9:7592760-7592910	NHDF-neo	bronchial:	n/a	chr9:7592820-7592828
45	CTCF	chr9:7592780-7592930	HPF	lung:	n/a	chr9:7592820-7592828
46	CTCF	chr9:7593229-7593281	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:7592800-7592950	MCF-7	breast:	n/a	chr9:7592820-7592828
48	CTCF	chr9:7592780-7592930	AG04450	lung:	n/a	chr9:7592820-7592828
49	CTCF	chr9:7592820-7592970	GM12873	blood:	n/a	chr9:7592820-7592828
50	CTCF	chr9:7592788-7592908	HUVEC	blood vessel:	n/a	chr9:7592820-7592828

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7592774..7593282-chr9:7827299..7827877,2	MCF-7	breast:
2	chr9:7592716..7593255-chr9:7844122..7844707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178654	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180929968	chr9:7592853-7592854	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540724603	chr9:7592866-7592867	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558843416	chr9:7592869-7592870	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148213164	chr9:7592872-7592873	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117511005	chr9:7592899-7592900	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566942447	chr9:7592920-7592921	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184896376	chr9:7592952-7592953	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140301215	chr9:7592960-7592961	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532655814	chr9:7592964-7592965	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113082953	chr9:7592978-7592979	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541396503	chr9:7592995-7592996	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150339860	chr9:7593040-7593041	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527358123	chr9:7593052-7593053	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552293245	chr9:7593053-7593054	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138106650	chr9:7593063-7593064	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117648800	chr9:7593064-7593065	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550081848	chr9:7593086-7593087	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568325083	chr9:7593154-7593155	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373474355	chr9:7593159-7593160	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535767741	chr9:7593165-7593166	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548242089	chr9:7593180-7593181	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375621529	chr9:7593234-7593235	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs543453274	chr9:7593271-7593272	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs143782527	chr9:7593274-7593275	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs147213829	chr9:7593345-7593346	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561636240	chr9:7593361-7593362	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs1817573	chr9:7593375-7593376	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138308759	chr9:7593378-7593379	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1817572	chr9:7593380-7593381	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1817571	chr9:7593391-7593392	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574745575	chr9:7593429-7593430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs537952981	chr9:7593931-7593932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537112671	chr9:7593960-7593961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183373671	chr9:7594024-7594025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574735229	chr9:7594037-7594038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs535774082	chr9:7594042-7594043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185769956	chr9:7594044-7594045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148732351	chr9:7594076-7594077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373275370	chr9:7601600-7601601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186343381	chr9:7601652-7601653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541181532	chr9:7601653-7601654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575838454	chr9:7601654-7601655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564712614	chr9:7601730-7601731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533402191	chr9:7601765-7601766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377520680	chr9:7601794-7601795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543350771	chr9:7601800-7601801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560697365	chr9:7601806-7601807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139880360	chr9:7601811-7601812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16926462	chr9:7601812-7601813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs564612652	chr9:7601815-7601816	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7592400-7593000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:7592400-7593200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:7592600-7593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:7592600-7593200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:7592600-7593200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:7592800-7593200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:7592800-7593200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:7593000-7593400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:7593000-7593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:7601600-7602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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