Variant report

Variant	nsv892229
Chromosome Location	chr9:8485201-8520366
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	chr9:8489844-8490104	K562	blood:	n/a	chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489991-8490002 chr9:8489992-8490001 chr9:8489990-8490001 chr9:8489992-8490001
2	CEBPB	chr9:8489834-8490183	H1-hESC	embryonic stem cell:	n/a	chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489991-8490002 chr9:8489992-8490001 chr9:8489990-8490001 chr9:8489992-8490001
3	CEBPB	chr9:8492380-8492642	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr9:8489836-8490146	Hela-S3	cervix:	n/a	chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489991-8490002 chr9:8489992-8490001 chr9:8489990-8490001 chr9:8489992-8490001
5	CEBPB	chr9:8489832-8490170	HepG2	liver:	n/a	chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489991-8490002 chr9:8489992-8490001 chr9:8489990-8490001 chr9:8489992-8490001
6	CEBPB	chr9:8489831-8490143	A549	lung:	n/a	chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489990-8490003 chr9:8489992-8490001 chr9:8489991-8490002 chr9:8489992-8490001 chr9:8489990-8490001 chr9:8489992-8490001
7	CHD2	chr9:8514763-8515040	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr9:8486220-8486370	HVMF	connective:	n/a	n/a
9	CTCF	chr9:8486160-8486310	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr9:8486291-8486320	HepG2	liver:	n/a	n/a
11	CTCF	chr9:8514943-8515005	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr9:8486200-8486357	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr9:8486166-8486372	Medullo	brain:	n/a	n/a
14	CTCF	chr9:8514964-8515049	GM12878	blood:	n/a	n/a
15	CTCF	chr9:8486140-8486290	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr9:8486260-8486410	HCM	heart:	n/a	n/a
17	CTCF	chr9:8486160-8486310	NHLF	lung:	n/a	n/a
18	CTCF	chr9:8486220-8486370	HMF	breast:	n/a	n/a
19	CTCF	chr9:8514934-8515026	Medullo	brain:	n/a	n/a
20	CTCF	chr9:8514980-8515130	BE2_C	brain:	n/a	n/a
21	CTCF	chr9:8514880-8515030	GM12878	blood:	n/a	n/a
22	CTCF	chr9:8486200-8486350	HMF	breast:	n/a	n/a
23	CTCF	chr9:8514880-8515030	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr9:8486200-8486350	GM12868	blood:	n/a	n/a
25	CTCF	chr9:8486180-8486330	GM12874	blood:	n/a	n/a
26	CTCF	chr9:8486242-8486333	GM12878	blood:	n/a	n/a
27	CTCF	chr9:8486200-8486350	NHEK	skin:	n/a	n/a
28	CTCF	chr9:8486160-8486310	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr9:8486193-8486366	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr9:8486065-8486466	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr9:8486180-8486330	HCFaa	heart:	n/a	n/a
32	CTCF	chr9:8486038-8486545	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr9:8486188-8486389	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:8514959-8514962	GM12878	blood:	n/a	n/a
35	CTCF	chr9:8486180-8486330	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr9:8514900-8515050	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:8504260-8504410	Caco-2	colon:	n/a	n/a
38	CTCF	chr9:8514940-8515090	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr9:8486260-8486410	NHEK	skin:	n/a	n/a
40	CTCF	chr9:8486180-8486330	HEK293	kidney:	n/a	n/a
41	CTCF	chr9:8504217-8504307	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr9:8486160-8486310	Caco-2	colon:	n/a	n/a
43	CTCF	chr9:8510168-8510233	ProgFib	skin:	n/a	n/a
44	CTCF	chr9:8486200-8486350	HRE	kidney:	n/a	n/a
45	CTCF	chr9:8486140-8486290	HepG2	liver:	n/a	n/a
46	CTCF	chr9:8486160-8486310	HAc	cerebellar:	n/a	n/a
47	CTCF	chr9:8514931-8515023	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr9:8486220-8486370	BE2_C	brain:	n/a	n/a
49	CTCF	chr9:8514860-8515010	GM12873	blood:	n/a	n/a
50	CTCF	chr9:8486240-8486390	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:8495120..8497177-chr9:8504224..8507159,2	K562	blood:
2	chr9:8495120..8497177-chr9:8504224..8507159,2	K562	blood:

Variant related genes	Relation type
PTPRD	TF binding region

Extended variants
information (count: 1841 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1841 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13286908	chr9:8485201-8485202	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138693679	chr9:8485235-8485236	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372802313	chr9:8485277-8485278	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148923236	chr9:8485281-8485282	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377410995	chr9:8485353-8485354	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532745792	chr9:8485356-8485357	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200129556	chr9:8485360-8485361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563235160	chr9:8485373-8485374	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530652737	chr9:8485377-8485378	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548748378	chr9:8485394-8485395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182590013	chr9:8485402-8485403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535571640	chr9:8485403-8485404	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187723424	chr9:8485410-8485411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566109487	chr9:8485418-8485419	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35777094	chr9:8485435-8485436	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9299066	chr9:8485437-8485438	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143353943	chr9:8485449-8485450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537711255	chr9:8485488-8485489	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556012253	chr9:8485493-8485494	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529263749	chr9:8485507-8485508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574244312	chr9:8485525-8485526	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77309896	chr9:8485534-8485535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570684092	chr9:8485549-8485550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78415086	chr9:8485550-8485551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113197248	chr9:8485593-8485594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143828735	chr9:8485615-8485616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538104604	chr9:8485617-8485618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556509943	chr9:8485682-8485683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7863060	chr9:8485686-8485687	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544664016	chr9:8485689-8485690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111343678	chr9:8485716-8485717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563273731	chr9:8485731-8485732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148159800	chr9:8485741-8485742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200119622	chr9:8485743-8485744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370939948	chr9:8485748-8485749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193147619	chr9:8485750-8485751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373838947	chr9:8485772-8485773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143674254	chr9:8485787-8485788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148110842	chr9:8485811-8485812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547908736	chr9:8485824-8485825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367882615	chr9:8485830-8485831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35929428	chr9:8485834-8485835	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368569086	chr9:8485845-8485846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146684382	chr9:8485846-8485847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576886695	chr9:8485847-8485848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372688371	chr9:8485850-8485851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376648567	chr9:8485872-8485873	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368787989	chr9:8485876-8485877	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372234003	chr9:8485883-8485884	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139259906	chr9:8485885-8485886	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
3	chr9:8442200-8522200	Weak transcription	Liver	Liver
4	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:8451400-8492000	Weak transcription	Psoas Muscle	Psoas
6	chr9:8464600-8494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:8473600-8491600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:8476800-8491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:8477000-8491600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:8478000-8487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8478200-8504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:8478400-8488800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:8478800-8485800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:8479000-8491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:8479200-8504000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:8481200-8500800	Weak transcription	Fetal Intestine Small	intestine
17	chr9:8481600-8488200	Strong transcription	Fetal Lung	lung
18	chr9:8482200-8486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:8482200-8487000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:8482400-8491800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:8482600-8486000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:8482600-8486200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr9:8482800-8486200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:8483400-8486200	Strong transcription	Fetal Muscle Leg	muscle
25	chr9:8483400-8486400	Strong transcription	Fetal Brain Male	brain
26	chr9:8483800-8486000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:8483800-8486000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr9:8483800-8486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:8483800-8486600	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr9:8483800-8487000	Strong transcription	Dnd41	blood
31	chr9:8483800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:8484000-8486000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:8484000-8486200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:8484000-8486200	Strong transcription	Brain Anterior Caudate	brain
35	chr9:8484000-8486200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:8484000-8486400	Strong transcription	Brain Angular Gyrus	brain
37	chr9:8484200-8485800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:8484400-8485400	Enhancers	Primary B cells from cord blood	blood
39	chr9:8484400-8492000	Weak transcription	Fetal Stomach	stomach
40	chr9:8484400-8492800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:8484400-8492800	Weak transcription	Brain Substantia Nigra	brain
42	chr9:8484800-8485600	Genic enhancers	Fetal Heart	heart
43	chr9:8484800-8487000	Strong transcription	Brain Germinal Matrix	brain
44	chr9:8485000-8486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:8485000-8486000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:8485000-8486200	Strong transcription	Fetal Kidney	kidney
47	chr9:8485000-8488800	Strong transcription	Fetal Brain Female	brain
48	chr9:8485200-8485400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:8485200-8486000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:8485200-8486400	Strong transcription	Brain Hippocampus Middle	brain

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