Variant report

Variant	nsv968739
Chromosome Location	chr9:102879081-102882884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr9:102878956-102879151	K562	blood:	n/a	n/a
2	POLR2A	chr9:102881884-102881963	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:102879492-102879512	A549	lung:	n/a	n/a
4	POLR2A	chr9:102879200-102879607	MCF-7	breast:	n/a	n/a
5	POLR2A	chr9:102878974-102879243	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:102879512-102879537	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:102879503-102879509	MCF-7	breast:	n/a	n/a
8	POLR2A	chr9:102879750-102879895	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:102879748-102879890	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:102879221-102879484	MCF-7	breast:	n/a	n/a
11	POLR2A	chr9:102878985-102879130	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:102878960-102879146	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:102882414-102882547	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr9:102879466-102879565	Gliobla	brain:	n/a	n/a
15	SRF	chr9:102881827-102881988	GM12878	blood:	n/a	n/a
16	ZBTB33	chr9:102878944-102879152	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:102879586-102879636	GM12892	blood:	n/a
2	chr9:102879586-102879636	PFSK-1	brain:	n/a
3	chr9:102879586-102879636	AG09319	gingival:	n/a
4	chr9:102879586-102879636	AG10803	skin:	n/a
5	chr9:102879586-102879636	A549	lung:	n/a
6	chr9:102879586-102879636	SK-N-MC	brain:	n/a
7	chr9:102879586-102879636	SK-N-SH	brain:	n/a
8	chr9:102879586-102879636	HIPEpiC	eye:	n/a
9	chr9:102879586-102879636	HEEpiC	esophagus:	n/a
10	chr9:102879586-102879636	MCF10A-Er-Src	breast:	n/a
11	chr9:102879586-102879636	HEK293	kidney:	embryo
12	chr9:102879586-102879636	HCT-116	colon:	n/a
13	chr9:102879586-102879636	IMR90	lung:	fetal
14	chr9:102879586-102879636	NH-A	brain:	n/a
15	chr9:102879586-102879636	GM12878	blood:	n/a
16	chr9:102879586-102879636	HRPEpiC	eye:	n/a
17	chr9:102879586-102879636	BE2_C	brain:	n/a
18	chr9:102879586-102879636	PrEC	prostate:	n/a
19	chr9:102879586-102879636	HNPCEpiC	eye:	n/a
20	chr9:102879586-102879636	GM06990	blood:	n/a
21	chr9:102879586-102879636	NB4	blood:	n/a
22	chr9:102879586-102879636	H1-hESC	embryonic stem cell:	embryo
23	chr9:102879586-102879636	HPAEpiC	pulmonary alveolar:	n/a
24	chr9:102879586-102879636	NHBE	bronchial:	n/a
25	chr9:102879586-102879636	T-47D	breast:	n/a
26	chr9:102879586-102879636	K562	blood:	n/a
27	chr9:102879586-102879636	HCM	heart:	n/a
28	chr9:102879586-102879636	HCF	heart:	n/a
29	chr9:102879586-102879636	ProgFib	skin:	n/a
30	chr9:102879586-102879636	HepG2	liver:	n/a
31	chr9:102879586-102879636	PANC-1	pancreas:	n/a
32	chr9:102879586-102879636	HRCEpiC	kidney:	n/a
33	chr9:102879586-102879636	Caco-2	colon:	n/a
34	chr9:102879586-102879636	SK-N-SH_RA	brain:	n/a
35	chr9:102879586-102879636	AG04450	lung:	fetal
36	chr9:102879586-102879636	U87	brain:	n/a
37	chr9:102879586-102879636	NHDF-neo	bronchial:	n/a
38	chr9:102879586-102879636	HCPEpiC	choroid plexus:	n/a
39	chr9:102879586-102879636	Jurkat	blood:	n/a
40	chr9:102879586-102879636	Hepatocyte	liver:	n/a
41	chr9:102879586-102879636	HMEC	breast:	n/a
42	chr9:102879586-102879636	RPTEC	kidney:	n/a
43	chr9:102879586-102879636	AG04449	skin:	fetal
44	chr9:102879586-102879636	HAEpiC	amniotic membrane:	n/a
45	chr9:102879586-102879636	ECC-1	luminal epithelium:	n/a
46	chr9:102879586-102879636	NT2-D1	testis:	n/a
47	chr9:102879586-102879636	AG09309	skin:	n/a
48	chr9:102879586-102879636	SKMC	muscle:	n/a
49	chr9:102879586-102879636	Hela-S3	cervix:	n/a
50	chr9:102879586-102879636	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102861067..102864152-chr9:102881091..102884307,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERP44-4	chr9:102882717-102883182	NONHSAT133709

No data

Variant related genes	Relation type
RPS2P35	TF binding region
RPS2P35	CpG island
ENSG00000119509	chromatin interactions
ENSG00000023318	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563633621	chr9:102879094-102879095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113537820	chr9:102879122-102879123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576276308	chr9:102879130-102879131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183311398	chr9:102879258-102879259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565153362	chr9:102879269-102879270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527631775	chr9:102879299-102879300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547066018	chr9:102879310-102879311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2485746	chr9:102879336-102879337	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs2761053	chr9:102879379-102879380	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs71370980	chr9:102879407-102879408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534298084	chr9:102879424-102879425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549817883	chr9:102879439-102879440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569669384	chr9:102879484-102879485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538834281	chr9:102879514-102879515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552384148	chr9:102879562-102879563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566031257	chr9:102879616-102879617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74647103	chr9:102879759-102879760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554973699	chr9:102879773-102879774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574728873	chr9:102879784-102879785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185462734	chr9:102879802-102879803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577442219	chr9:102879804-102879805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571375464	chr9:102879812-102879813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545220416	chr9:102879813-102879814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7047030	chr9:102879846-102879847	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533465854	chr9:102879892-102879893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572276693	chr9:102879893-102879894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541271282	chr9:102879978-102879979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561044940	chr9:102880072-102880073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529655580	chr9:102880119-102880120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376334089	chr9:102880122-102880123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543088114	chr9:102880172-102880173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371076396	chr9:102880194-102880195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563025044	chr9:102880202-102880203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139373538	chr9:102880238-102880239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116491592	chr9:102880290-102880291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563004473	chr9:102880345-102880346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528666575	chr9:102880349-102880350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575167351	chr9:102880371-102880372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548836325	chr9:102880386-102880387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189846225	chr9:102880507-102880508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537431023	chr9:102880572-102880573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557121013	chr9:102880583-102880584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150035102	chr9:102880584-102880585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539899433	chr9:102880589-102880590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553505816	chr9:102880591-102880592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572238927	chr9:102880593-102880594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182697748	chr9:102880640-102880641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542260853	chr9:102880681-102880682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147283510	chr9:102880789-102880790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554836381	chr9:102880871-102880872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102862200-102879800	Weak transcription	Esophagus	oesophagus
2	chr9:102862200-102881000	Weak transcription	Gastric	stomach
3	chr9:102862200-102902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:102862400-102881400	Weak transcription	Colonic Mucosa	Colon
5	chr9:102862800-102881800	Weak transcription	Right Ventricle	heart
6	chr9:102862800-102887400	Weak transcription	Pancreas	Pancrea
7	chr9:102867000-102881000	Weak transcription	Spleen	Spleen
8	chr9:102867000-102899800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:102868600-102895600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:102869000-102880200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:102869000-102881800	Weak transcription	Psoas Muscle	Psoas
12	chr9:102869000-102886600	Weak transcription	K562	blood
13	chr9:102869000-102888600	Weak transcription	Hela-S3	cervix
14	chr9:102869200-102889800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:102869200-102901800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:102869400-102899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:102869800-102895600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:102869800-102896400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:102870000-102882800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:102870000-102887200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:102870000-102892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:102870000-102895800	Weak transcription	Thymus	Thymus
23	chr9:102870000-102902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:102870200-102881200	Weak transcription	Fetal Kidney	kidney
25	chr9:102870200-102891000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr9:102870600-102888600	Weak transcription	Fetal Thymus	thymus
27	chr9:102871000-102890200	Weak transcription	HUVEC	blood vessel
28	chr9:102871200-102890600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:102871200-102897400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr9:102871400-102890200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:102872000-102896600	Weak transcription	Placenta	Placenta
32	chr9:102872600-102883400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr9:102872800-102879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:102872800-102895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:102873800-102882400	Weak transcription	Primary B cells from cord blood	blood
36	chr9:102873800-102888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:102873800-102895800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:102873800-102900200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:102874000-102879200	Weak transcription	Ovary	ovary
40	chr9:102874000-102884400	Weak transcription	GM12878-XiMat	blood
41	chr9:102874000-102888600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:102874000-102896000	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:102874000-102896000	Weak transcription	Lung	lung
44	chr9:102874200-102879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:102874200-102879200	Weak transcription	Adipose Nuclei	Adipose
46	chr9:102874200-102879800	Weak transcription	HSMM	muscle
47	chr9:102874200-102880400	Weak transcription	NHLF	lung
48	chr9:102874200-102881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr9:102874200-102882200	Weak transcription	Dnd41	blood
50	chr9:102874200-102882600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links