Variant report

Variant	nsv892634
Chromosome Location	chr9:15696501-15746168
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	ARID3A	chr9:15738069-15738699	HepG2	liver:	n/a	n/a
2	BACH1	chr9:15724284-15724315	K562	blood:	n/a	n/a
3	BACH1	chr9:15722850-15723205	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:15712591-15712742	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr9:15735107-15735781	A549	lung:	n/a	chr9:15735616-15735627
6	CEBPB	chr9:15741023-15741380	IMR90	lung:	n/a	chr9:15741201-15741212
7	CEBPB	chr9:15741051-15741354	A549	lung:	n/a	chr9:15741201-15741212
8	CEBPB	chr9:15734335-15734526	A549	lung:	n/a	n/a
9	CEBPB	chr9:15741024-15741393	HepG2	liver:	n/a	chr9:15741201-15741212
10	CEBPB	chr9:15741050-15741339	H1-hESC	embryonic stem cell:	n/a	chr9:15741201-15741212
11	CEBPB	chr9:15724070-15724406	Hela-S3	cervix:	n/a	chr9:15724219-15724230 chr9:15724219-15724230
12	CEBPB	chr9:15714960-15715003	A549	lung:	n/a	n/a
13	CEBPB	chr9:15730933-15731218	HepG2	liver:	n/a	chr9:15731094-15731105
14	CEBPB	chr9:15735045-15735794	IMR90	lung:	n/a	chr9:15735616-15735627
15	CEBPB	chr9:15730990-15731258	A549	lung:	n/a	chr9:15731094-15731105
16	CEBPB	chr9:15735042-15735513	MCF-7	breast:	n/a	n/a
17	CEBPB	chr9:15734342-15734549	IMR90	lung:	n/a	n/a
18	CEBPB	chr9:15734822-15735983	Hela-S3	cervix:	n/a	chr9:15735616-15735627
19	CEBPB	chr9:15730933-15731271	IMR90	lung:	n/a	chr9:15731094-15731105
20	CEBPB	chr9:15735000-15735439	MCF-7	breast:	n/a	n/a
21	CEBPB	chr9:15697348-15697947	IMR90	lung:	n/a	n/a
22	CEBPB	chr9:15735056-15735385	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr9:15735009-15735843	A549	lung:	n/a	chr9:15735616-15735627
24	CEBPB	chr9:15741073-15741357	Hela-S3	cervix:	n/a	chr9:15741201-15741212
25	CEBPB	chr9:15735040-15735683	ECC-1	luminal epithelium:	n/a	chr9:15735616-15735627
26	CEBPB	chr9:15696978-15698055	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr9:15741109-15741261	HepG2	liver:	n/a	chr9:15741201-15741212
28	CEBPB	chr9:15741125-15741305	K562	blood:	n/a	chr9:15741201-15741212
29	CTCF	chr9:15744420-15744570	WI-38	lung:	n/a	n/a
30	CTCF	chr9:15697040-15697190	GM12864	blood:	n/a	n/a
31	CTCF	chr9:15742480-15742630	GM06990	blood:	n/a	n/a
32	CTCF	chr9:15697000-15697150	NHEK	skin:	n/a	n/a
33	CTCF	chr9:15696940-15697090	NHEK	skin:	n/a	n/a
34	CTCF	chr9:15696980-15697130	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:15717400-15717550	BE2_C	brain:	n/a	n/a
36	CTCF	chr9:15696960-15697110	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr9:15697036-15697230	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr9:15696980-15697130	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr9:15697020-15697170	A549	lung:	n/a	n/a
40	CTCF	chr9:15697060-15697210	HCM	heart:	n/a	n/a
41	CTCF	chr9:15697040-15697190	HEK293	kidney:	n/a	n/a
42	CTCF	chr9:15697040-15697190	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr9:15718735-15718787	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr9:15697040-15697190	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr9:15696860-15697010	NHLF	lung:	n/a	n/a
46	CTCF	chr9:15717431-15717510	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr9:15717460-15717610	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr9:15697060-15697210	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr9:15697000-15697150	AG10803	skin:	n/a	n/a
50	CTCF	chr9:15697060-15697350	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:15510294..15512690-chr9:15720146..15721868,2	MCF-7	breast:
2	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:
3	chr9:15732005..15734234-chr9:15736903..15738825,2	K562	blood:

Variant related genes	Relation type
CCDC171	TF binding region
ENSG00000164985	chromatin interactions

Extended variants
information (count: 2192 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2192 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6474949	chr9:15696501-15696502	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150940569	chr9:15696518-15696519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530893912	chr9:15696520-15696521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181519028	chr9:15696528-15696529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574295721	chr9:15696567-15696568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114538808	chr9:15696578-15696579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186302770	chr9:15696586-15696587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140686001	chr9:15696601-15696602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35685969	chr9:15696617-15696618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568346707	chr9:15696637-15696638	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150080886	chr9:15696638-15696639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539998741	chr9:15696697-15696698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138478992	chr9:15696722-15696723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576055599	chr9:15696779-15696780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371614057	chr9:15696802-15696803	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115727722	chr9:15696824-15696825	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34908567	chr9:15696842-15696843	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs35882136	chr9:15696845-15696846	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34161039	chr9:15696857-15696858	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558281714	chr9:15696865-15696866	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375621361	chr9:15696871-15696872	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370248556	chr9:15696877-15696878	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550108500	chr9:15696885-15696886	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34640139	chr9:15696898-15696899	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34436333	chr9:15696902-15696903	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541363276	chr9:15696913-15696914	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs80066186	chr9:15696942-15696943	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190018888	chr9:15696993-15696994	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115818961	chr9:15697017-15697018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146767534	chr9:15697040-15697041	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372477710	chr9:15697074-15697075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs79697282	chr9:15697079-15697080	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546145190	chr9:15697133-15697134	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs57688272	chr9:15697153-15697154	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560079580	chr9:15697184-15697185	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74716608	chr9:15697189-15697190	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546937787	chr9:15697261-15697262	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565140549	chr9:15697297-15697298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139237760	chr9:15697313-15697314	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529396658	chr9:15697354-15697355	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182296082	chr9:15697376-15697377	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143355921	chr9:15697398-15697399	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376182304	chr9:15697408-15697409	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576917121	chr9:15697470-15697471	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527740624	chr9:15697504-15697505	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144830346	chr9:15697509-15697510	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148094099	chr9:15697520-15697521	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534904742	chr9:15697586-15697587	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553263196	chr9:15697587-15697588	Enhancers Flanking Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35047765	chr9:15697602-15697603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15669000-15720800	Weak transcription	Gastric	stomach
2	chr9:15675000-15699000	Weak transcription	Left Ventricle	heart
3	chr9:15676600-15725000	Weak transcription	Pancreas	Pancrea
4	chr9:15679800-15746800	Weak transcription	Ovary	ovary
5	chr9:15684000-15697000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:15687600-15746600	Weak transcription	Aorta	Aorta
7	chr9:15690400-15721800	Weak transcription	Fetal Lung	lung
8	chr9:15691400-15699200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:15691800-15717000	Weak transcription	Thymus	Thymus
10	chr9:15693800-15703600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:15694000-15700800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:15694200-15697400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:15694200-15705600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:15694600-15700200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:15694800-15700200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:15695000-15697600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:15695200-15696800	Enhancers	Hela-S3	cervix
18	chr9:15695600-15700000	Weak transcription	Lung	lung
19	chr9:15695800-15697000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:15695800-15697400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:15695800-15698000	Weak transcription	Fetal Thymus	thymus
22	chr9:15695800-15699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:15696000-15696800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:15696600-15698200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:15696800-15697000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:15696800-15697200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:15696800-15697400	Flanking Active TSS	Hela-S3	cervix
28	chr9:15696800-15697600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:15696800-15698200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:15696800-15698200	Enhancers	NHLF	lung
31	chr9:15696800-15698400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:15697000-15697200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:15697000-15697400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr9:15697000-15697400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:15697000-15697400	Enhancers	Esophagus	oesophagus
36	chr9:15697000-15697400	Enhancers	A549	lung
37	chr9:15697000-15697600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:15697000-15697600	Enhancers	NHDF-Ad	bronchial
39	chr9:15697000-15697800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:15697000-15697800	Enhancers	HMEC	breast
41	chr9:15697000-15698000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:15697000-15698000	Enhancers	HUVEC	blood vessel
43	chr9:15697000-15698000	Enhancers	Osteobl	bone
44	chr9:15697000-15698200	Enhancers	NH-A	brain
45	chr9:15697000-15698200	Enhancers	NHEK	skin
46	chr9:15697000-15698400	Enhancers	HSMM	muscle
47	chr9:15697200-15697600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:15697200-15697600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr9:15697200-15698000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:15697200-15698000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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