Variant report

Variant	nsv948147
Chromosome Location	chr10:97755109-97761062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:97759231-97759399	A549	lung:	n/a	chr10:97759330-97759343 chr10:97759330-97759341 chr10:97759332-97759341 chr10:97759332-97759343
2	CEBPB	chr10:97759201-97759401	HepG2	liver:	n/a	chr10:97759330-97759343 chr10:97759330-97759341 chr10:97759332-97759341 chr10:97759332-97759343
3	POLR2A	chr10:97757996-97758123	GM12878	blood:	n/a	n/a
4	STAT3	chr10:97760829-97761045	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:97760036-97760086	GM12892	blood:	n/a
2	chr10:97760036-97760086	PANC-1	pancreas:	n/a
3	chr10:97760036-97760086	CMK	blood:	n/a
4	chr10:97760036-97760086	GM06990	blood:	n/a
5	chr10:97760036-97760086	HRE	kidney:	n/a
6	chr10:97760036-97760086	LNCaP	prostate:	n/a
7	chr10:97760036-97760086	PrEC	prostate:	n/a
8	chr10:97760036-97760086	HIPEpiC	eye:	n/a
9	chr10:97760036-97760086	SAEC	small airway:	n/a
10	chr10:97760036-97760086	HPAEpiC	pulmonary alveolar:	n/a
11	chr10:97760036-97760086	MCF-7	breast:	n/a
12	chr10:97760036-97760086	GM19239	blood:	n/a
13	chr10:97760036-97760086	HCM	heart:	n/a
14	chr10:97760036-97760086	HCT-116	colon:	n/a
15	chr10:97760036-97760086	SK-N-SH_RA	brain:	n/a
16	chr10:97760036-97760086	K562	blood:	n/a
17	chr10:97760036-97760086	SK-N-SH	brain:	n/a
18	chr10:97760036-97760086	AoSMC	blood vessel:	n/a
19	chr10:97760036-97760086	ovcar-3	ovarian:	n/a
20	chr10:97760036-97760086	RPTEC	kidney:	n/a
21	chr10:97760036-97760086	AG09319	gingival:	n/a
22	chr10:97760036-97760086	AG04450	lung:	fetal
23	chr10:97760036-97760086	SK-N-MC	brain:	n/a
24	chr10:97760036-97760086	A549	lung:	n/a
25	chr10:97760036-97760086	HRPEpiC	eye:	n/a
26	chr10:97760036-97760086	NH-A	brain:	n/a
27	chr10:97760036-97760086	U87	brain:	n/a
28	chr10:97760036-97760086	HCF	heart:	n/a
29	chr10:97760036-97760086	NHBE	bronchial:	n/a
30	chr10:97760036-97760086	BJ	skin:	n/a
31	chr10:97760036-97760086	NB4	blood:	n/a
32	chr10:97760036-97760086	Caco-2	colon:	n/a
33	chr10:97760036-97760086	HNPCEpiC	eye:	n/a
34	chr10:97760036-97760086	HL-60	blood:	n/a
35	chr10:97760036-97760086	GM12891	blood:	n/a
36	chr10:97760036-97760086	MCF10A-Er-Src	breast:	n/a
37	chr10:97760036-97760086	HCPEpiC	choroid plexus:	n/a
38	chr10:97760036-97760086	HepG2	liver:	n/a
39	chr10:97760036-97760086	HRCEpiC	kidney:	n/a
40	chr10:97760036-97760086	GM12878	blood:	n/a
41	chr10:97760036-97760086	NHDF-neo	bronchial:	n/a
42	chr10:97760036-97760086	PFSK-1	brain:	n/a
43	chr10:97760036-97760086	HAEpiC	amniotic membrane:	n/a
44	chr10:97760036-97760086	H1-hESC	embryonic stem cell:	embryo
45	chr10:97760036-97760086	ECC-1	luminal epithelium:	n/a
46	chr10:97760036-97760086	NT2-D1	testis:	n/a
47	chr10:97760036-97760086	AG09309	skin:	n/a
48	chr10:97760036-97760086	SKMC	muscle:	n/a
49	chr10:97760036-97760086	HEEpiC	esophagus:	n/a
50	chr10:97760036-97760086	IMR90	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLNK-5	chr10:97759535-97760000	NONHSAT015784

No data

Variant related genes	Relation type
CC2D2B	TF binding region
ENSG00000227805	TF binding region
CC2D2B	CpG island
ENSG00000227805	CpG island

Extended variants
information (count: 165 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549055245	chr10:97755812-97755813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562795199	chr10:97755823-97755824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538243435	chr10:97755847-97755848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558855401	chr10:97755900-97755901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190077771	chr10:97755944-97755945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531442066	chr10:97755993-97755994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192553921	chr10:97756013-97756014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551625443	chr10:97756038-97756039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571035052	chr10:97756076-97756077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368112748	chr10:97756095-97756096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533600287	chr10:97756181-97756182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546988909	chr10:97756194-97756195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566968313	chr10:97756222-97756223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538043016	chr10:97756278-97756279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555819402	chr10:97756313-97756314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575871809	chr10:97756314-97756315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145544300	chr10:97756377-97756378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558347897	chr10:97756444-97756445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578152259	chr10:97756454-97756455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540684008	chr10:97756501-97756502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554305748	chr10:97756530-97756531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199639185	chr10:97756559-97756560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11188549	chr10:97756593-97756594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542993861	chr10:97756594-97756595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184560184	chr10:97756629-97756630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531608950	chr10:97756690-97756691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534543998	chr10:97756712-97756713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148874422	chr10:97756810-97756811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187889140	chr10:97756832-97756833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547128851	chr10:97756878-97756879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12255122	chr10:97756905-97756906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs35894075	chr10:97756934-97756935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142720237	chr10:97756940-97756941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573221953	chr10:97756947-97756948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114273335	chr10:97756950-97756951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545063916	chr10:97756998-97756999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75688110	chr10:97757009-97757010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140815116	chr10:97757039-97757040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571918221	chr10:97757041-97757042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534384256	chr10:97757094-97757095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11188550	chr10:97757097-97757098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs550769613	chr10:97757143-97757144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113970023	chr10:97757278-97757279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192312514	chr10:97757298-97757299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74402253	chr10:97757312-97757313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576258595	chr10:97757408-97757409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544945293	chr10:97757442-97757443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370255766	chr10:97757446-97757447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185054613	chr10:97757463-97757464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540805364	chr10:97757490-97757491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97755800-97765000	Weak transcription	Ovary	ovary
2	chr10:97758000-97758800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:97758200-97758600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:97758400-97758800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links