Variant report

Variant	nsv892187
Chromosome Location	chr9:6974101-7035727
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	chr9:6986412-6986867	HepG2	liver:	n/a	n/a
2	ATF1	chr9:7011743-7011938	K562	blood:	n/a	n/a
3	ATF2	chr9:6973706-6974207	GM12878	blood:	n/a	n/a
4	ATF2	chr9:6973498-6974318	GM12878	blood:	n/a	n/a
5	BATF	chr9:6973758-6974189	GM12878	blood:	n/a	chr9:6973978-6973989
6	BATF	chr9:6973808-6974185	GM12878	blood:	n/a	chr9:6973978-6973989
7	BCL11A	chr9:6973811-6974164	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:6973797-6974200	GM12878	blood:	n/a	n/a
9	BCLAF1	chr9:6973634-6974239	GM12878	blood:	n/a	n/a
10	CEBPB	chr9:6977604-6977858	HepG2	liver:	n/a	chr9:6977724-6977735
11	CEBPB	chr9:6973780-6974141	HepG2	liver:	n/a	chr9:6973932-6973943
12	CEBPB	chr9:6978980-6979154	IMR90	lung:	n/a	chr9:6979013-6979024
13	CEBPB	chr9:6978200-6978538	IMR90	lung:	n/a	chr9:6978313-6978324 chr9:6978311-6978324 chr9:6978311-6978324
14	CEBPB	chr9:7001595-7001907	K562	blood:	n/a	chr9:7001766-7001783 chr9:7001769-7001782
15	CEBPB	chr9:6978304-6978492	A549	lung:	n/a	chr9:6978313-6978324 chr9:6978311-6978324 chr9:6978311-6978324
16	CEBPB	chr9:6973833-6974107	A549	lung:	n/a	chr9:6973932-6973943
17	CEBPB	chr9:6978235-6978587	HepG2	liver:	n/a	chr9:6978313-6978324 chr9:6978311-6978324 chr9:6978311-6978324
18	CEBPB	chr9:6986539-6986736	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:7001647-7001868	IMR90	lung:	n/a	chr9:7001766-7001783 chr9:7001769-7001782
20	CEBPB	chr9:6986475-6986845	HepG2	liver:	n/a	n/a
21	CEBPB	chr9:6978979-6979053	HepG2	liver:	n/a	chr9:6979013-6979024
22	CEBPB	chr9:6973574-6974322	GM12878	blood:	n/a	chr9:6973932-6973943
23	CHD2	chr9:7006711-7006764	GM12878	blood:	n/a	n/a
24	CTCF	chr9:7008040-7008190	GM12871	blood:	n/a	n/a
25	CTCF	chr9:6974449-6974534	GM20000	blood:	n/a	n/a
26	CTCF	chr9:6985129-6985138	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:7027600-7027750	GM12866	blood:	n/a	n/a
28	CTCF	chr9:6980879-6980977	Lung_OC	lung:	n/a	n/a
29	CTCF	chr9:6985059-6985128	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:6980980-6981130	GM12872	blood:	n/a	n/a
31	E2F4	chr9:6975353-6975589	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr9:7009393-7009858	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr9:7014900-7015160	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr9:6973845-6974104	GM12878	blood:	n/a	n/a
35	EBF1	chr9:6986524-6986776	GM12878	blood:	n/a	n/a
36	EP300	chr9:6976327-6977286	SK-N-SH	brain:	n/a	n/a
37	EP300	chr9:7009268-7009280	GM12878	blood:	n/a	n/a
38	EP300	chr9:6973811-6974143	GM12878	blood:	n/a	n/a
39	EP300	chr9:6973798-6974208	GM12878	blood:	n/a	n/a
40	FAM48A	chr9:7000681-7000765	GM12878	blood:	n/a	n/a
41	FAM48A	chr9:7014453-7014484	GM12878	blood:	n/a	n/a
42	FOS	chr9:6975432-6975443	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:6973775-6974165	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:6973788-6974136	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:6975425-6975510	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr9:6997657-6997660	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:6973774-6974166	MCF10A-Er-Src	breast:	n/a	n/a
48	FOXA1	chr9:6973722-6974139	HepG2	liver:	n/a	n/a
49	FOXA1	chr9:6973827-6974144	HepG2	liver:	n/a	n/a
50	FOXA1	chr9:7005352-7005680	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:6986135..6988312-chr9:6992816..6995034,2	MCF-7	breast:
2	chr9:7001163..7002731-chr9:7004777..7006309,2	K562	blood:
3	chr9:7028131..7030409-chr9:7036098..7038098,2	MCF-7	breast:
4	chr9:6972707..6974430-chr9:6976948..6979606,2	K562	blood:
5	chr9:6986135..6988312-chr9:6992816..6995034,2	MCF-7	breast:
6	chr9:7001163..7002731-chr9:7004777..7006309,2	K562	blood:
7	chr5:35003633..35004245-chr9:7020432..7021432,2	K562	blood:
8	chr9:6978865..6981054-chr9:6982708..6984588,2	K562	blood:
9	chr9:6972707..6974430-chr9:6976948..6979606,2	K562	blood:
10	chr9:6996659..6998506-chr9:6999056..7001855,2	K562	blood:
11	chr9:6996659..6998506-chr9:6999056..7001855,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UHRF2-2	chr9:6978625-6978859	ENSG00000224972.1
2	lnc-UHRF2-2	chr9:6974766-6974939	ENSG00000224972.1

Variant related genes	Relation type
KDM4C	TF binding region
ENSG00000107077	chromatin interactions

Extended variants
information (count: 3352 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3352 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6477134	chr9:6974101-6974102	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540424572	chr9:6974122-6974123	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148126258	chr9:6974130-6974131	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs118151996	chr9:6974143-6974144	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140991786	chr9:6974144-6974145	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550677999	chr9:6974164-6974165	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150234763	chr9:6974175-6974176	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529655697	chr9:6974187-6974188	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547884004	chr9:6974202-6974203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577310672	chr9:6974236-6974237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567104610	chr9:6974246-6974247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534264785	chr9:6974252-6974253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114146521	chr9:6974258-6974259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116426207	chr9:6974273-6974274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538072404	chr9:6974289-6974290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534126124	chr9:6974291-6974292	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144651137	chr9:6974321-6974322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62534373	chr9:6974334-6974335	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372343175	chr9:6974378-6974379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112610714	chr9:6974382-6974383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138900677	chr9:6974383-6974384	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553925422	chr9:6974396-6974397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143286192	chr9:6974398-6974399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540566558	chr9:6974399-6974400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578200477	chr9:6974405-6974406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371018421	chr9:6974407-6974408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565050162	chr9:6974408-6974409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577083348	chr9:6974409-6974410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543670782	chr9:6974411-6974412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544089353	chr9:6974412-6974413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371383028	chr9:6974423-6974424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183276164	chr9:6974427-6974428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529753126	chr9:6974429-6974430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375951305	chr9:6974458-6974459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559753849	chr9:6974482-6974483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73397846	chr9:6974483-6974484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552427217	chr9:6974493-6974494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113887071	chr9:6974522-6974523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570827755	chr9:6974548-6974549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147543224	chr9:6974604-6974605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185725899	chr9:6974605-6974606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1340516	chr9:6974607-6974608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535617127	chr9:6974637-6974638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137888110	chr9:6974638-6974639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143458684	chr9:6974642-6974643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143948520	chr9:6974647-6974648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558855294	chr9:6974661-6974662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371623905	chr9:6974697-6974698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191966008	chr9:6974743-6974744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544344806	chr9:6974777-6974778	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD

Chromatin state (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6890000-6987200	Weak transcription	Aorta	Aorta
2	chr9:6893800-6981600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr9:6912400-6978400	Weak transcription	Esophagus	oesophagus
4	chr9:6922600-6981000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:6932800-6985000	Weak transcription	Spleen	Spleen
6	chr9:6939400-6978600	Weak transcription	Lung	lung
7	chr9:6945000-6981000	Weak transcription	Liver	Liver
8	chr9:6945200-6982600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:6953000-6982600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:6954200-6994800	Weak transcription	Gastric	stomach
11	chr9:6955400-6982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr9:6955400-6982600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:6955400-6984200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:6955600-6984200	Weak transcription	Small Intestine	intestine
15	chr9:6956000-6996000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:6958000-6982200	Weak transcription	Ovary	ovary
17	chr9:6958000-6984000	Weak transcription	Pancreas	Pancrea
18	chr9:6958000-6984200	Weak transcription	Brain Substantia Nigra	brain
19	chr9:6959200-6980800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:6959800-6982400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:6960200-6980800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:6960200-6987000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:6960600-6980800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr9:6960600-6984800	Weak transcription	Fetal Intestine Small	intestine
25	chr9:6961000-6978800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:6961000-6979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr9:6961000-6979600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:6961000-6980200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr9:6961000-6981200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:6961000-6981600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:6961000-6982600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:6961000-6982600	Weak transcription	Thymus	Thymus
33	chr9:6961200-6977600	Weak transcription	Primary T cells from cord blood	blood
34	chr9:6961200-6978400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:6961200-6980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:6961200-6981000	Weak transcription	Fetal Thymus	thymus
37	chr9:6961200-6982600	Weak transcription	Adipose Nuclei	Adipose
38	chr9:6961400-6980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:6961400-6982200	Weak transcription	K562	blood
40	chr9:6961400-6984000	Weak transcription	Left Ventricle	heart
41	chr9:6961400-6984200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:6962000-6977000	Weak transcription	Primary B cells from cord blood	blood
43	chr9:6962200-6980800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr9:6962600-6981000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr9:6968400-6980800	Weak transcription	HSMM	muscle
46	chr9:6968400-6982600	Weak transcription	Fetal Intestine Large	intestine
47	chr9:6968400-6986600	Weak transcription	Osteobl	bone
48	chr9:6968600-6982400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:6969000-6981000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:6969600-6974400	Weak transcription	Fetal Heart	heart

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