Variant report

Variant	nsv525363
Chromosome Location	chr9:95598200-95605067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:95598686-95598742	HepG2	liver:	n/a	n/a
2	CTCF	chr9:95599889-95599995	GM13976	blood:	n/a	n/a
3	E2F6	chr9:95599323-95600106	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr9:95599408-95599719	K562	blood:	n/a	n/a
5	GTF2F1	chr9:95600556-95600573	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr9:95603570-95603600	HepG2	liver:	n/a	n/a
7	MAX	chr9:95599322-95599698	K562	blood:	n/a	n/a
8	MAX	chr9:95599348-95599730	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr9:95599028-95599251	K562	blood:	n/a	n/a
10	MAX	chr9:95599331-95599714	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr9:95599412-95599580	MCF-7	breast:	n/a	n/a
12	MYC	chr9:95602840-95602871	MCF-7	breast:	n/a	n/a
13	MYC	chr9:95599176-95599205	MCF-7	breast:	n/a	n/a
14	POLR2A	chr9:95599133-95599155	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:95599071-95599258	K562	blood:	n/a	n/a
16	POLR2A	chr9:95599810-95599947	MCF-7	breast:	n/a	n/a
17	POLR2A	chr9:95599083-95599384	GM12891	blood:	n/a	n/a
18	POLR2A	chr9:95599246-95599407	MCF-7	breast:	n/a	n/a
19	POLR2A	chr9:95599115-95599153	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:95599157-95599727	MCF-7	breast:	n/a	n/a
21	POLR2A	chr9:95599341-95599415	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:95604919-95605071	K562	blood:	n/a	n/a
23	POLR2A	chr9:95603434-95603567	K562	blood:	n/a	n/a
24	POLR2A	chr9:95603034-95603385	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:95599796-95599805	MCF-7	breast:	n/a	n/a
26	POLR2A	chr9:95599737-95599842	MCF-7	breast:	n/a	n/a
27	POLR2A	chr9:95599263-95599634	MCF-7	breast:	n/a	n/a
28	POLR2A	chr9:95599775-95599785	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:95599884-95599916	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:95599543-95599841	ProgFib	skin:	n/a	n/a
31	POLR2A	chr9:95599050-95599150	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr9:95602614-95602628	HepG2	liver:	n/a	n/a
33	POLR2A	chr9:95599055-95599268	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:95599779-95599864	MCF-7	breast:	n/a	n/a
35	POLR2A	chr9:95602115-95602285	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:95599147-95599151	A549	lung:	n/a	n/a
37	POLR2A	chr9:95599804-95599819	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr9:95599169-95599215	MCF-7	breast:	n/a	n/a
39	POLR2A	chr9:95599232-95599262	A549	lung:	n/a	n/a
40	SETDB1	chr9:95600856-95601046	U2OS	brain:	n/a	n/a
41	STAT3	chr9:95600073-95600297	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF263	chr9:95599177-95599489	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95599703-95599753	T-47D	breast:	n/a
2	chr9:95599703-95599753	AG04449	skin:	fetal
3	chr9:95599703-95599753	BE2_C	brain:	n/a
4	chr9:95599703-95599753	GM12878	blood:	n/a
5	chr9:95599703-95599753	Jurkat	blood:	n/a
6	chr9:95599703-95599753	SAEC	small airway:	n/a
7	chr9:95599703-95599753	HPAEpiC	pulmonary alveolar:	n/a
8	chr9:95599703-95599753	SK-N-SH_RA	brain:	n/a
9	chr9:95599703-95599753	AG09319	gingival:	n/a
10	chr9:95599703-95599753	HRCEpiC	kidney:	n/a
11	chr9:95599703-95599753	IMR90	lung:	fetal
12	chr9:95599703-95599753	HIPEpiC	eye:	n/a
13	chr9:95599703-95599753	AG10803	skin:	n/a
14	chr9:95599703-95599753	HNPCEpiC	eye:	n/a
15	chr9:95599703-95599753	HCT-116	colon:	n/a
16	chr9:95599703-95599753	HCF	heart:	n/a
17	chr9:95599703-95599753	AG04450	lung:	fetal
18	chr9:95599703-95599753	HUVEC	blood vessel:	n/a
19	chr9:95599703-95599753	AoSMC	blood vessel:	n/a
20	chr9:95599703-95599753	HMEC	breast:	n/a
21	chr9:95599703-95599753	HepG2	liver:	n/a
22	chr9:95599703-95599753	GM06990	blood:	n/a
23	chr9:95599703-95599753	AG09309	skin:	n/a
24	chr9:95599703-95599753	Caco-2	colon:	n/a
25	chr9:95599703-95599753	HAEpiC	amniotic membrane:	n/a
26	chr9:95599703-95599753	PrEC	prostate:	n/a
27	chr9:95599703-95599753	HEK293	kidney:	embryo
28	chr9:95599703-95599753	ProgFib	skin:	n/a
29	chr9:95599703-95599753	MCF-7	breast:	n/a
30	chr9:95599703-95599753	LNCaP	prostate:	n/a
31	chr9:95599703-95599753	GM19239	blood:	n/a
32	chr9:95599703-95599753	GM12891	blood:	n/a
33	chr9:95599703-95599753	U87	brain:	n/a
34	chr9:95599703-95599753	Hepatocyte	liver:	n/a
35	chr9:95599703-95599753	GM12892	blood:	n/a
36	chr9:95599703-95599753	NH-A	brain:	n/a
37	chr9:95599703-95599753	HL-60	blood:	n/a
38	chr9:95599703-95599753	NHDF-neo	bronchial:	n/a
39	chr9:95599703-95599753	MCF10A-Er-Src	breast:	n/a
40	chr9:95599703-95599753	ovcar-3	ovarian:	n/a
41	chr9:95599703-95599753	SK-N-SH	brain:	n/a
42	chr9:95599703-95599753	SK-N-MC	brain:	n/a
43	chr9:95599703-95599753	NB4	blood:	n/a
44	chr9:95599703-95599753	CMK	blood:	n/a
45	chr9:95599703-95599753	HRE	kidney:	n/a
46	chr9:95599703-95599753	HRPEpiC	eye:	n/a
47	chr9:95599703-95599753	RPTEC	kidney:	n/a
48	chr9:95599703-95599753	SKMC	muscle:	n/a
49	chr9:95599703-95599753	A549	lung:	n/a
50	chr9:95599703-95599753	H1-hESC	embryonic stem cell:	embryo

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95601889..95603930-chr9:95606539..95609176,2	K562	blood:
2	chr9:95598967..95600808-chr9:95603300..95605228,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF484-1	chr9:95602166-95604018	ENSG00000248982

No data

Variant related genes	Relation type
EEF1DP2	TF binding region
EEF1DP2	CpG island
ENSG00000226721	chromatin interactions
RRM2	miRNA target sites

Extended variants
information (count: 249 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7873259	chr9:95598200-95598201	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78660351	chr9:95598392-95598393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529058055	chr9:95598400-95598401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562035753	chr9:95598402-95598403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76226700	chr9:95598594-95598595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377461949	chr9:95598642-95598643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186609184	chr9:95598644-95598645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551690479	chr9:95598669-95598670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12379300	chr9:95598716-95598717	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs78345532	chr9:95598793-95598794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548636491	chr9:95598805-95598806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567032666	chr9:95598814-95598815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139079893	chr9:95598820-95598821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556336266	chr9:95598851-95598852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191007514	chr9:95598882-95598883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547872548	chr9:95598895-95598896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143106984	chr9:95598906-95598907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147049852	chr9:95598917-95598918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572313935	chr9:95598931-95598932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138401849	chr9:95598993-95598994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555050898	chr9:95599003-95599004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs576606214	chr9:95599007-95599008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116451620	chr9:95599009-95599010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548897024	chr9:95599018-95599019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs35327181	chr9:95599020-95599021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553868727	chr9:95599021-95599022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs13298805	chr9:95599028-95599029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs13293840	chr9:95599029-95599030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs13298811	chr9:95599037-95599038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs13293848	chr9:95599038-95599039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562654828	chr9:95599051-95599052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10156497	chr9:95599082-95599083	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372688534	chr9:95599088-95599089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544950203	chr9:95599089-95599090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560414163	chr9:95599118-95599119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181198260	chr9:95599128-95599129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548573617	chr9:95599183-95599184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566972187	chr9:95599213-95599214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531296539	chr9:95599220-95599221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549499918	chr9:95599229-95599230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571720457	chr9:95599230-95599231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539236461	chr9:95599236-95599237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554128417	chr9:95599268-95599269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574484074	chr9:95599294-95599295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541776010	chr9:95599295-95599296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566365270	chr9:95599306-95599307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536588697	chr9:95599309-95599310	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554991534	chr9:95599310-95599311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368044192	chr9:95599317-95599318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61750866	chr9:95599339-95599340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Microcephaly	18830227	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95596800-95600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:95596800-95601800	Weak transcription	Brain Angular Gyrus	brain
3	chr9:95598000-95616800	ZNF genes & repeats	Liver	Liver
4	chr9:95598600-95603200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:95599000-95600000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:95599200-95599600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:95599200-95599600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr9:95599200-95599800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:95599200-95599800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:95599200-95599800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr9:95599200-95600000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr9:95599200-95600000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:95599200-95600000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:95599200-95600200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:95599400-95599600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr9:95599400-95599800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:95599400-95599800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:95599600-95600000	ZNF genes & repeats	Placenta	Placenta
19	chr9:95599800-95600800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:95599800-95608400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:95600000-95608400	Weak transcription	Placenta	Placenta
22	chr9:95600000-95610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:95600400-95600800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr9:95600600-95601000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:95601000-95605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:95603000-95607800	Weak transcription	NH-A	brain
27	chr9:95603200-95608000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:95603400-95616200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:95603600-95609000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:95604400-95608400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:95604600-95607600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:95605000-95605400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:95605000-95605600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr9:95605000-95605600	ZNF genes & repeats	A549	lung
35	chr9:95605000-95608400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr9:95605000-95611200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:95605000-95624200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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