Variant report

Variant	nsv1033313
Chromosome Location	chr9:12985981-13037413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:13034076-13034447	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:13023407-13023862	MCF-7	breast:	n/a	chr9:13023441-13023452
3	CEBPB	chr9:13023462-13023889	MCF-7	breast:	n/a	n/a
4	CEBPB	chr9:12993478-12993785	IMR90	lung:	n/a	n/a
5	CEBPB	chr9:13022910-13023041	A549	lung:	n/a	n/a
6	CEBPB	chr9:13017970-13018214	A549	lung:	n/a	n/a
7	CEBPB	chr9:13017938-13018130	HepG2	liver:	n/a	n/a
8	CHD2	chr9:13034283-13034375	HepG2	liver:	n/a	n/a
9	CREB1	chr9:13034239-13034529	A549	lung:	n/a	n/a
10	CTCF	chr9:13034260-13034410	HRE	kidney:	n/a	n/a
11	CTCF	chr9:13034123-13034560	A549	lung:	n/a	n/a
12	CTCF	chr9:13034300-13034450	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr9:13034300-13034450	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr9:13034268-13034458	GM20000	blood:	n/a	n/a
15	CTCF	chr9:13034280-13034430	AG09309	skin:	n/a	n/a
16	CTCF	chr9:13034260-13034410	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr9:12988340-12988490	AG09319	gingival:	n/a	n/a
18	CTCF	chr9:13034300-13034450	GM12873	blood:	n/a	n/a
19	CTCF	chr9:13034300-13034450	AG10803	skin:	n/a	n/a
20	CTCF	chr9:13034320-13034470	HMEC	breast:	n/a	n/a
21	CTCF	chr9:13034280-13034430	HAc	cerebellar:	n/a	n/a
22	CTCF	chr9:13034300-13034450	BJ	skin:	n/a	n/a
23	CTCF	chr9:13034300-13034450	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr9:13034280-13034430	HFF	foreskin:	n/a	n/a
25	CTCF	chr9:13034320-13034470	GM12875	blood:	n/a	n/a
26	CTCF	chr9:13034280-13034430	GM12878	blood:	n/a	n/a
27	CTCF	chr9:13030540-13030690	WI-38	lung:	n/a	n/a
28	CTCF	chr9:13034320-13034470	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr9:13034197-13034505	T-47D	breast:	n/a	n/a
30	CTCF	chr9:13034340-13034490	GM12864	blood:	n/a	n/a
31	CTCF	chr9:13034249-13034522	GM12892	blood:	n/a	n/a
32	CTCF	chr9:13034222-13034550	A549	lung:	n/a	n/a
33	CTCF	chr9:13034320-13034470	GM06990	blood:	n/a	n/a
34	CTCF	chr9:13034280-13034430	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr9:13034193-13034575	HepG2	liver:	n/a	n/a
36	CTCF	chr9:13034360-13034510	GM12865	blood:	n/a	n/a
37	CTCF	chr9:13034280-13034430	GM12867	blood:	n/a	n/a
38	CTCF	chr9:13034278-13034465	GM13976	blood:	n/a	n/a
39	CTCF	chr9:13034280-13034430	MCF-7	breast:	n/a	n/a
40	CTCF	chr9:12988409-12988499	LNCaP	prostate:	n/a	n/a
41	CTCF	chr9:13034217-13034539	Gliobla	brain:	n/a	n/a
42	CTCF	chr9:13034280-13034430	BE2_C	brain:	n/a	n/a
43	CTCF	chr9:13033160-13033310	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr9:13034300-13034450	AG04449	skin:	n/a	n/a
45	CTCF	chr9:13034260-13034410	HL-60	blood:	n/a	n/a
46	CTCF	chr9:13034300-13034450	SAEC	small airway:	n/a	n/a
47	CTCF	chr9:13034169-13034560	A549	lung:	n/a	n/a
48	CTCF	chr9:13034060-13034210	Caco-2	colon:	n/a	n/a
49	CTCF	chr9:13034251-13034497	GM12878	blood:	n/a	n/a
50	CTCF	chr9:13034340-13034490	GM12869	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13002424..13004560-chr9:13006872..13008431,2	MCF-7	breast:
2	chr9:12719485..12720037-chr9:12987933..12988498,2	MCF-7	breast:
3	chr9:13013683..13015999-chr9:13017070..13019514,2	MCF-7	breast:
4	chr9:13020387..13022064-chr9:13024360..13026782,2	K562	blood:
5	chr9:13033929..13034651-chr9:14400323..14400953,2	MCF-7	breast:
6	chr9:13008470..13010567-chr9:13018005..13020586,2	MCF-7	breast:
7	chr9:13034942..13035837-chr9:13088355..13089237,4	MCF-7	breast:
8	chr9:13033916..13034844-chr9:13088403..13089550,10	MCF-7	breast:
9	chr9:13008470..13010567-chr9:13018005..13020586,2	MCF-7	breast:
10	chr9:13033933..13036265-chr9:13080318..13084279,3	MCF-7	breast:
11	chr9:12723685..12724314-chr9:12988034..12988919,3	MCF-7	breast:
12	chr9:13034030..13034837-chr9:13088503..13089360,4	K562	blood:
13	chr9:13002424..13004560-chr9:13006872..13008431,2	MCF-7	breast:
14	chr9:13013683..13015999-chr9:13017070..13019514,2	MCF-7	breast:
15	chr9:13033734..13035793-chr9:13280439..13283221,2	K562	blood:
16	chr9:13036362..13039283-chr9:13086631..13088810,2	K562	blood:
17	chr9:13020387..13022064-chr9:13024360..13026782,2	K562	blood:
18	chr9:12776384..12777092-chr9:12988313..12988856,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-4	chr9:13021693-13022891	NONHSAT130232

No data

Variant related genes	Relation type
ENSG00000234586	TF binding region

Extended variants
information (count: 1857 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1857 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571433469	chr9:12986016-12986017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533436020	chr9:12986040-12986041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550301228	chr9:12986046-12986047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531516649	chr9:12986131-12986132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185039976	chr9:12986157-12986158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117161712	chr9:12986179-12986180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34784045	chr9:12986251-12986252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530798725	chr9:12986259-12986260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562156074	chr9:12986260-12986261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61156756	chr9:12986408-12986409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535344499	chr9:12986420-12986421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147308990	chr9:12986444-12986445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577821876	chr9:12986472-12986473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188926706	chr9:12986475-12986476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561015724	chr9:12986486-12986487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181666152	chr9:12986495-12986496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376669568	chr9:12986499-12986500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370821208	chr9:12986501-12986502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542284359	chr9:12986509-12986510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559580842	chr9:12986626-12986627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528340034	chr9:12986676-12986677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148788659	chr9:12986710-12986711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551427004	chr9:12986715-12986716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530734368	chr9:12986749-12986750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112324985	chr9:12986784-12986785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1412300	chr9:12986799-12986800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570192549	chr9:12986819-12986820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1332073	chr9:12986823-12986824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549075475	chr9:12986827-12986828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566655475	chr9:12986843-12986844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566088788	chr9:12986880-12986881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534961433	chr9:12986890-12986891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142470034	chr9:12986913-12986914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151237084	chr9:12986918-12986919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537292189	chr9:12986921-12986922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552177480	chr9:12986935-12986936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75788303	chr9:12987038-12987039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57430667	chr9:12987098-12987099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536359968	chr9:12987108-12987109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552665619	chr9:12987131-12987132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572798383	chr9:12987133-12987134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544933863	chr9:12987160-12987161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75665320	chr9:12987164-12987165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373897801	chr9:12987178-12987179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578116384	chr9:12987208-12987209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571515133	chr9:12987234-12987235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140440021	chr9:12987273-12987274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373593431	chr9:12987281-12987282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144233643	chr9:12987282-12987283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537819680	chr9:12987287-12987288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12984200-12987000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12985400-12987400	Weak transcription	Fetal Lung	lung
3	chr9:12987000-12987400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12987000-12987600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:12987400-12989000	Enhancers	Fetal Lung	lung
6	chr9:12987600-12988600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:12988600-12988800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:12989000-12993200	Weak transcription	Fetal Lung	lung
9	chr9:12993200-12993400	Enhancers	Spleen	Spleen
10	chr9:12993200-12995200	Enhancers	Fetal Lung	lung
11	chr9:12993400-12994600	Weak transcription	Spleen	Spleen
12	chr9:12994600-12995400	Enhancers	Spleen	Spleen
13	chr9:12995200-12996600	Weak transcription	Fetal Lung	lung
14	chr9:12996600-12997000	Enhancers	Fetal Lung	lung
15	chr9:12996600-12997400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr9:12996800-12997400	Enhancers	Fetal Heart	heart
17	chr9:12997000-12997400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:12997000-12997400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:12997000-12997400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:12997000-12997400	Enhancers	Colon Smooth Muscle	Colon
21	chr9:12997000-12997400	Flanking Active TSS	Fetal Lung	lung
22	chr9:12997000-12997400	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:12997400-13001000	Weak transcription	Fetal Lung	lung
24	chr9:12997400-13001400	Weak transcription	Fetal Heart	heart
25	chr9:13000800-13001000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:13001000-13001600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:13001000-13002400	Enhancers	Fetal Lung	lung
28	chr9:13001400-13001800	Enhancers	Liver	Liver
29	chr9:13001400-13003200	Enhancers	Fetal Heart	heart
30	chr9:13001600-13001800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:13001600-13002000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:13001600-13002200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:13001600-13002400	Active TSS	Stomach Smooth Muscle	stomach
34	chr9:13001800-13002200	Active TSS	NHDF-Ad	bronchial
35	chr9:13001800-13002400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:13001800-13002400	Flanking Active TSS	Liver	Liver
37	chr9:13001800-13002400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr9:13001800-13002600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:13002000-13002400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:13002000-13002400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:13002000-13002400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr9:13002200-13002400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr9:13002200-13003000	Enhancers	NHEK	skin
44	chr9:13002400-13002600	Enhancers	Liver	Liver
45	chr9:13002400-13002600	Flanking Active TSS	HSMMtube	muscle
46	chr9:13002400-13003000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:13002400-13005200	Weak transcription	Fetal Lung	lung
48	chr9:13003000-13003200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:13004800-13005400	ZNF genes & repeats	Aorta	Aorta
50	chr9:13005200-13005400	ZNF genes & repeats	Fetal Lung	lung

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