Variant report

Variant	nsv1027674
Chromosome Location	chr9:10016077-10045136
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	chr9:10026580-10026730	RPTEC	kidney:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
2	CTCF	chr9:10026619-10026648	GM12878	blood:	n/a	chr9:10026619-10026640
3	CTCF	chr9:10026520-10026670	GM12872	blood:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
4	CTCF	chr9:10026593-10026664	Gliobla	brain:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
5	CTCF	chr9:10026629-10026674	GM10248	blood:	n/a	n/a
6	CTCF	chr9:10026500-10026650	GM12869	blood:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
7	CTCF	chr9:10022144-10022258	GM20000	blood:	n/a	n/a
8	CTCF	chr9:10026570-10026680	HepG2	liver:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
9	CTCF	chr9:10026484-10026732	GM12878	blood:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
10	CTCF	chr9:10026640-10026790	HMEC	breast:	n/a	n/a
11	CTCF	chr9:10026500-10026650	RPTEC	kidney:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
12	CTCF	chr9:10022429-10022533	GM10248	blood:	n/a	n/a
13	CTCF	chr9:10026540-10026690	HL-60	blood:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
14	CTCF	chr9:10026540-10026690	GM12872	blood:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
15	CTCF	chr9:10026520-10026670	WERI-Rb-1	eye:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
16	CTCF	chr9:10026578-10026668	MCF-7	breast:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
17	CTCF	chr9:10026544-10026711	Medullo	brain:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
18	CTCF	chr9:10026548-10026679	HUVEC	blood vessel:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
19	CTCF	chr9:10026540-10026690	HRE	kidney:	n/a	chr9:10026618-10026634 chr9:10026619-10026640
20	CTCF	chr9:10026665-10026669	Gliobla	brain:	n/a	n/a
21	E2F4	chr9:10034915-10034979	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:10032317-10032463	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:10032288-10032456	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr9:10026464-10026736	HepG2	liver:	n/a	n/a
25	FOXA2	chr9:10026542-10026741	HepG2	liver:	n/a	n/a
26	MAFF	chr9:10042173-10042587	HepG2	liver:	n/a	chr9:10042281-10042299
27	MAFK	chr9:10042163-10042590	HepG2	liver:	n/a	chr9:10042491-10042506 chr9:10042496-10042507 chr9:10042495-10042506 chr9:10042495-10042506 chr9:10042496-10042507 chr9:10042277-10042297
28	MAFK	chr9:10042169-10042592	HepG2	liver:	n/a	chr9:10042491-10042506 chr9:10042496-10042507 chr9:10042495-10042506 chr9:10042495-10042506 chr9:10042496-10042507 chr9:10042277-10042297
29	MYC	chr9:10026707-10026965	NB4	blood:	n/a	n/a
30	POLR2A	chr9:10024203-10024479	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr9:10027118-10027254	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr9:10036077-10036570	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr9:10021840-10021979	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:10016977-10016987	GM12878	blood:	n/a	n/a
35	POLR2A	chr9:10036155-10036305	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr9:10034954-10035075	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr9:10017527-10017712	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:10023129-10023329	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr9:10027509-10027773	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr9:10041778-10041927	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr9:10024338-10024367	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr9:10036142-10036532	H1-neurons	neurons:	n/a	n/a
43	RAD21	chr9:10026487-10026797	H1-hESC	embryonic stem cell:	n/a	chr9:10026618-10026637
44	RAD21	chr9:10026503-10026762	H1-hESC	embryonic stem cell:	n/a	chr9:10026618-10026637
45	RAD21	chr9:10026514-10026728	H1-hESC	embryonic stem cell:	n/a	chr9:10026618-10026637
46	SMC3	chr9:10026561-10026661	HepG2	liver:	n/a	n/a
47	STAT3	chr9:10032198-10032399	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr9:10032810-10033007	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr9:10032255-10032455	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr9:10040791-10041056	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PTPRD	TF binding region

Extended variants
information (count: 830 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189303470	chr9:10022629-10022630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555265156	chr9:10022658-10022659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71497169	chr9:10022666-10022667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533792661	chr9:10022698-10022699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148814146	chr9:10022701-10022702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192526818	chr9:10022742-10022743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560044586	chr9:10022802-10022803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184458659	chr9:10023011-10023012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189322810	chr9:10023012-10023013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576160980	chr9:10023026-10023027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574953555	chr9:10023110-10023111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181230904	chr9:10023120-10023121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551918118	chr9:10023149-10023150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555386675	chr9:10023158-10023159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565361486	chr9:10023171-10023172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572077821	chr9:10023172-10023173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541052958	chr9:10023175-10023176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186473277	chr9:10023202-10023203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577764324	chr9:10023227-10023228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528852513	chr9:10023244-10023245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563867670	chr9:10023254-10023255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16930832	chr9:10023288-10023289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188624255	chr9:10023328-10023329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142514278	chr9:10023370-10023371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527261789	chr9:10023378-10023379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531164035	chr9:10023397-10023398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550243931	chr9:10023405-10023406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181428097	chr9:10023412-10023413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79454841	chr9:10023421-10023422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115606703	chr9:10023426-10023427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10809012	chr9:10023441-10023442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569795967	chr9:10023452-10023453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535309803	chr9:10023453-10023454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555611877	chr9:10023464-10023465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10809013	chr9:10023484-10023485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534695785	chr9:10023492-10023493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546191090	chr9:10023511-10023512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557685948	chr9:10023516-10023517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572479494	chr9:10023526-10023527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577626929	chr9:10023528-10023529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185911399	chr9:10023546-10023547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540773928	chr9:10023548-10023549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190719665	chr9:10023552-10023553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77686479	chr9:10023571-10023572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184097330	chr9:10023577-10023578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559192039	chr9:10023593-10023594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542887946	chr9:10023616-10023617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377726752	chr9:10023621-10023622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199708493	chr9:10023624-10023625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71485309	chr9:10023632-10023633	Enhancers	n/a	n/a	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
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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10022600-10024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:10025600-10027400	Enhancers	Dnd41	blood
3	chr9:10025800-10027600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:10026000-10026400	Enhancers	Brain Anterior Caudate	brain
5	chr9:10026200-10027000	Enhancers	Primary hematopoietic stem cells	blood
6	chr9:10026200-10027000	Enhancers	Brain Cingulate Gyrus	brain
7	chr9:10026200-10027000	Enhancers	Brain Substantia Nigra	brain
8	chr9:10026200-10027200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:10026400-10027000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr9:10026600-10027200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:10028000-10030000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:10035600-10040000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:10040000-10040400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:10040000-10040600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:10040000-10041000	Enhancers	Fetal Heart	heart
16	chr9:10040400-10040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:10040400-10042200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:10040600-10041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:10040600-10041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:10040600-10046000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:10041000-10041600	Weak transcription	Fetal Heart	heart
22	chr9:10041600-10042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:10041600-10042600	Enhancers	Fetal Heart	heart
24	chr9:10041800-10042400	Enhancers	Rectal Smooth Muscle	rectum
25	chr9:10041800-10042600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:10041800-10042600	Enhancers	Fetal Brain Female	brain
27	chr9:10042200-10042400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr9:10042600-10048000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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