Variant report

Variant	nsv979239
Chromosome Location	chr2:96145151-96150576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96146833-96146859	GM13976	blood:	n/a	n/a
2	CTCF	chr2:96146779-96146846	GM10248	blood:	n/a	n/a
3	CTCF	chr2:96148072-96148126	Medullo	brain:	n/a	n/a
4	SPI1	chr2:96147522-96147737	GM12891	blood:	n/a	n/a
5	SPI1	chr2:96147510-96147748	GM12891	blood:	n/a	n/a
6	SPI1	chr2:96147518-96147724	GM12878	blood:	n/a	n/a
7	SPI1	chr2:96147567-96147717	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96148075-96148125	AG10803	skin:	n/a
2	chr2:96148075-96148125	AG10803	skin:	n/a
3	chr2:96148075-96148125	MCF10A-Er-Src	breast:	n/a
4	chr2:96149768-96149818	HAEpiC	amniotic membrane:	n/a
5	chr2:96149768-96149818	A549	lung:	n/a
6	chr2:96149768-96149818	HUVEC	blood vessel:	n/a
7	chr2:96148075-96148125	SK-N-MC	brain:	n/a
8	chr2:96149768-96149818	BJ	skin:	n/a
9	chr2:96148075-96148125	AG09319	gingival:	n/a
10	chr2:96148075-96148125	NHDF-neo	bronchial:	n/a
11	chr2:96148075-96148125	LNCaP	prostate:	n/a
12	chr2:96148075-96148125	PrEC	prostate:	n/a
13	chr2:96149768-96149818	IMR90	lung:	fetal
14	chr2:96149768-96149818	HCM	heart:	n/a
15	chr2:96148075-96148125	HEEpiC	esophagus:	n/a
16	chr2:96148075-96148125	GM19239	blood:	n/a
17	chr2:96148075-96148125	IMR90	lung:	fetal
18	chr2:96148075-96148125	RPTEC	kidney:	n/a
19	chr2:96149768-96149818	NHDF-neo	bronchial:	n/a
20	chr2:96149768-96149818	HRPEpiC	eye:	n/a
21	chr2:96148075-96148125	SK-N-SH	brain:	n/a
22	chr2:96149768-96149818	SKMC	muscle:	n/a
23	chr2:96148075-96148125	GM12878	blood:	n/a
24	chr2:96148075-96148125	HNPCEpiC	eye:	n/a
25	chr2:96149768-96149818	GM12878	blood:	n/a
26	chr2:96149768-96149818	HIPEpiC	eye:	n/a
27	chr2:96148075-96148125	K562	blood:	n/a
28	chr2:96148075-96148125	GM12892	blood:	n/a
29	chr2:96148075-96148125	HRCEpiC	kidney:	n/a
30	chr2:96149768-96149818	H1-hESC	embryonic stem cell:	embryo
31	chr2:96149768-96149818	HCT-116	colon:	n/a
32	chr2:96149768-96149818	BE2_C	brain:	n/a
33	chr2:96148075-96148125	NT2-D1	testis:	n/a
34	chr2:96149768-96149818	Hela-S3	cervix:	n/a
35	chr2:96149768-96149818	ovcar-3	ovarian:	n/a
36	chr2:96149768-96149818	PANC-1	pancreas:	n/a
37	chr2:96148075-96148125	SAEC	small airway:	n/a
38	chr2:96149768-96149818	NH-A	brain:	n/a
39	chr2:96149768-96149818	AoSMC	blood vessel:	n/a
40	chr2:96149768-96149818	SK-N-SH	brain:	n/a
41	chr2:96149768-96149818	CMK	blood:	n/a
42	chr2:96149768-96149818	AG04449	skin:	fetal
43	chr2:96148075-96148125	T-47D	breast:	n/a
44	chr2:96148075-96148125	A549	lung:	n/a
45	chr2:96148075-96148125	BE2_C	brain:	n/a
46	chr2:96148075-96148125	ovcar-3	ovarian:	n/a
47	chr2:96148075-96148125	HCT-116	colon:	n/a
48	chr2:96148075-96148125	U87	brain:	n/a
49	chr2:96148075-96148125	HL-60	blood:	n/a
50	chr2:96148075-96148125	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96065770..96068557-chr2:96149024..96150845,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238162	TF binding region
TRIM43B	TF binding region
ENSG00000238162	CpG island
TRIM43B	CpG island
ENSG00000115042	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553029034	chr2:96147530-96147531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367692247	chr2:96147531-96147532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573123213	chr2:96147537-96147538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs553444765	chr2:96147546-96147547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs578246249	chr2:96147549-96147550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545162908	chr2:96147558-96147559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565448461	chr2:96147591-96147592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531187491	chr2:96147622-96147623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187384200	chr2:96147632-96147633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563334914	chr2:96147660-96147661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545746284	chr2:96147670-96147671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575739368	chr2:96148075-96148076	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs371134371	chr2:96148081-96148082	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs544922225	chr2:96148090-96148091	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs532000824	chr2:96149030-96149031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566559699	chr2:96149036-96149037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538632307	chr2:96149090-96149091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552660545	chr2:96149106-96149107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569216274	chr2:96149115-96149116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538439734	chr2:96149116-96149117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554914556	chr2:96149131-96149132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575079068	chr2:96149151-96149152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534532698	chr2:96149162-96149163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184011708	chr2:96149165-96149166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199670149	chr2:96149175-96149176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374635205	chr2:96149180-96149181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572899430	chr2:96149203-96149204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188953229	chr2:96149244-96149245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550423816	chr2:96149282-96149283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575201732	chr2:96149295-96149296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144846062	chr2:96149299-96149300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147517887	chr2:96149302-96149303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529822689	chr2:96149307-96149308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546516781	chr2:96149315-96149316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6745115	chr2:96149320-96149321	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184453222	chr2:96149347-96149348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140069125	chr2:96149369-96149370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552245064	chr2:96149385-96149386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569233763	chr2:96149420-96149421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548134783	chr2:96149432-96149433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373505995	chr2:96149448-96149449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548687412	chr2:96149475-96149476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568701463	chr2:96149481-96149482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534364213	chr2:96149503-96149504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554522294	chr2:96149524-96149525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567741973	chr2:96149525-96149526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186882457	chr2:96149541-96149542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191769792	chr2:96149544-96149545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534841496	chr2:96149577-96149578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs386648357	chr2:96149579-96149580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links