Variant report

Variant	nsv892320
Chromosome Location	chr9:10510683-10555039
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	CEBPB	chr9:10512234-10512477	K562	blood:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
2	CEBPB	chr9:10512167-10512523	HepG2	liver:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
3	CEBPB	chr9:10512172-10512513	A549	lung:	n/a	chr9:10512340-10512351 chr9:10512339-10512352 chr9:10512339-10512352
4	CEBPB	chr9:10512220-10512514	H1-hESC	embryonic stem cell:	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	chr9:10523193-10523241	HepG2	liver:	n/a	chr9:10523228-10523239 chr9:10523226-10523237 chr9:10523226-10523239 chr9:10523228-10523239 chr9:10523226-10523239
7	CTCF	chr9:10547385-10547407	GM10266	blood:	n/a	n/a
8	CTCF	chr9:10526100-10526250	HMEC	breast:	n/a	n/a
9	CTCF	chr9:10525980-10526130	NHEK	skin:	n/a	n/a
10	CTCF	chr9:10526020-10526170	NB4	blood:	n/a	n/a
11	CTCF	chr9:10526060-10526210	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr9:10526127-10526196	Medullo	brain:	n/a	n/a
13	CTCF	chr9:10526040-10526190	RPTEC	kidney:	n/a	n/a
14	CTCF	chr9:10526080-10526230	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr9:10526060-10526210	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr9:10525951-10526236	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:10531500-10531650	HRE	kidney:	n/a	n/a
18	CTCF	chr9:10526060-10526210	HEK293	kidney:	n/a	n/a
19	CTCF	chr9:10526100-10526250	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr9:10526080-10526230	HMEC	breast:	n/a	n/a
21	CTCF	chr9:10526080-10526230	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr9:10525960-10526110	RPTEC	kidney:	n/a	n/a
23	CTCF	chr9:10526020-10526170	HRE	kidney:	n/a	n/a
24	CTCF	chr9:10526120-10526270	HMF	breast:	n/a	n/a
25	CUX1	chr9:10523089-10523158	GM12878	blood:	n/a	n/a
26	E2F4	chr9:10511085-10511298	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr9:10522558-10522754	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr9:10537410-10537616	MCF10A-Er-Src	breast:	n/a	n/a
29	FAM48A	chr9:10547691-10547775	GM12878	blood:	n/a	n/a
30	FOS	chr9:10539631-10539901	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr9:10539670-10539982	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:10539741-10540011	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr9:10539654-10539951	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXP2	chr9:10534936-10535172	SK-N-MC	brain:	n/a	n/a
35	GATA3	chr9:10523228-10523385	SH-SY5Y	brain:	n/a	n/a
36	JUN	chr9:10512250-10512465	HepG2	liver:	n/a	chr9:10512337-10512350
37	JUND	chr9:10512198-10512508	HepG2	liver:	n/a	n/a
38	MAFK	chr9:10537305-10537306	HepG2	liver:	n/a	n/a
39	MAFK	chr9:10531259-10531459	HepG2	liver:	n/a	n/a
40	MAFK	chr9:10549576-10549588	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr9:10523368-10523373	GM12878	blood:	n/a	n/a
42	MYC	chr9:10545280-10545300	H1-hESC	embryonic stem cell:	n/a	n/a
43	NFYA	chr9:10526212-10526610	GM12878	blood:	n/a	chr9:10526581-10526591
44	NFYB	chr9:10552215-10552408	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:10534830-10535256	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr9:10537459-10537514	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr9:10525776-10525790	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr9:10515133-10515178	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:10534459-10534483	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr9:10549837-10550015	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TYRP1-5	chr9:10532145-10532411	NONHSAT130199

Variant related genes	Relation type
ENSG00000234360	TF binding region

Extended variants
information (count: 261 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145669672	chr9:10523442-10523443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547003217	chr9:10523472-10523473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145387735	chr9:10523543-10523544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544821395	chr9:10523562-10523563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147324810	chr9:10523572-10523573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10959143	chr9:10523595-10523596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373808260	chr9:10523599-10523600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6150917	chr9:10523601-10523602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201455705	chr9:10523602-10523603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201735410	chr9:10523618-10523619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs10959144	chr9:10523620-10523621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144431928	chr9:10523621-10523622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs554367559	chr9:10523622-10523623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs57535661	chr9:10523623-10523624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10959145	chr9:10523637-10523638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34292948	chr9:10523638-10523639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549666047	chr9:10523642-10523643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569869845	chr9:10523650-10523651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201337207	chr9:10523658-10523659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140974777	chr9:10523659-10523660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199660479	chr9:10523660-10523661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555934615	chr9:10523664-10523665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4461952	chr9:10523685-10523686	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559689060	chr9:10523706-10523707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs702128	chr9:10523720-10523721	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115881306	chr9:10523745-10523746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544136725	chr9:10523786-10523787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs833425	chr9:10527045-10527046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548614762	chr9:10527050-10527051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552922586	chr9:10527056-10527057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375213651	chr9:10527062-10527063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572794838	chr9:10527084-10527085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs833426	chr9:10527150-10527151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558609523	chr9:10527152-10527153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193169013	chr9:10527163-10527164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543958509	chr9:10527229-10527230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185437873	chr9:10527230-10527231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56275289	chr9:10527259-10527260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540376446	chr9:10527290-10527291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189426003	chr9:10527294-10527295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560517873	chr9:10527307-10527308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7037265	chr9:10527308-10527309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534149207	chr9:10527319-10527320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553445973	chr9:10527320-10527321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546194220	chr9:10527378-10527379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563012337	chr9:10527381-10527382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542603869	chr9:10531261-10531262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559475629	chr9:10531289-10531290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184665221	chr9:10531315-10531316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545203296	chr9:10531318-10531319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10523400-10523800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:10527000-10527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:10535200-10537600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:10543600-10544000	Active TSS	Aorta	Aorta
5	chr9:10548400-10548800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:10548400-10548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:10548400-10548800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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