Variant report

Variant	esv1795300
Chromosome Location	chr2:110558285-110644144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:972)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:110597287-110597588	GM12878	blood:	n/a	n/a
2	BATF	chr2:110565195-110565489	GM12878	blood:	n/a	n/a
3	BATF	chr2:110591595-110591865	GM12878	blood:	n/a	n/a
4	BATF	chr2:110596705-110596958	GM12878	blood:	n/a	n/a
5	BATF	chr2:110628689-110629008	GM12878	blood:	n/a	n/a
6	BATF	chr2:110628682-110629136	GM12878	blood:	n/a	n/a
7	BATF	chr2:110596658-110596861	GM12878	blood:	n/a	n/a
8	BATF	chr2:110594892-110595317	GM12878	blood:	n/a	n/a
9	BATF	chr2:110592910-110593154	GM12878	blood:	n/a	n/a
10	BATF	chr2:110595079-110595276	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:110605050-110605227	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:110622746-110622931	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:110615296-110615523	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:110584727-110584955	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:110628740-110628913	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:110602022-110602295	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:110599243-110599681	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:110608683-110608858	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:110598028-110598323	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:110608748-110608993	HepG2	liver:	n/a	n/a
21	BHLHE40	chr2:110560190-110560446	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:110629094-110629314	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:110628662-110629055	HepG2	liver:	n/a	n/a
24	BHLHE40	chr2:110603361-110603699	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:110618320-110618612	HepG2	liver:	n/a	n/a
26	BHLHE40	chr2:110599670-110599908	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:110596505-110596759	HepG2	liver:	n/a	n/a
28	BHLHE40	chr2:110599190-110599634	HepG2	liver:	n/a	n/a
29	BHLHE40	chr2:110611478-110611704	HepG2	liver:	n/a	n/a
30	BHLHE40	chr2:110563703-110563900	HepG2	liver:	n/a	n/a
31	BHLHE40	chr2:110575410-110575772	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:110573639-110573790	K562	blood:	n/a	n/a
33	CEBPB	chr2:110573581-110573891	K562	blood:	n/a	n/a
34	CTCF	chr2:110634335-110634478	LNCaP	prostate:	n/a	chr2:110634385-110634403 chr2:110634387-110634408
35	CTCF	chr2:110628764-110628984	GM19238	blood:	n/a	n/a
36	CTCF	chr2:110628743-110629003	LNCaP	prostate:	n/a	n/a
37	CTCF	chr2:110628555-110629160	A549	lung:	n/a	n/a
38	CTCF	chr2:110628778-110628963	GM19239	blood:	n/a	n/a
39	CTCF	chr2:110628785-110628955	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:110628770-110628949	GM13976	blood:	n/a	n/a
41	CTCF	chr2:110628725-110629007	LNCaP	prostate:	n/a	n/a
42	CTCF	chr2:110628786-110628954	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:110628750-110629002	GM12878	blood:	n/a	n/a
44	CTCF	chr2:110628758-110628976	NHEK	skin:	n/a	n/a
45	CTCF	chr2:110628764-110628970	GM12892	blood:	n/a	n/a
46	CTCF	chr2:110628742-110629012	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr2:110628716-110629057	K562	blood:	n/a	n/a
48	CTCF	chr2:110628745-110628968	ProgFib	skin:	n/a	n/a
49	CTCF	chr2:110628752-110629016	K562	blood:	n/a	n/a
50	CTCF	chr2:110633687-110633722	LNCaP	prostate:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIMS3.1-2	chr2:110596511-110596570	NONHSAT073153
2	lnc-SEPT10-2	chr2:110595035-110595535	ucscGeneNc_uc010fjz_1
3	lnc-SEPT10-2	chr2:110615775-110615987	ucscGeneNc_uc010fjz_1
4	lnc-SEPT10-2	chr2:110598802-110598916	ucscGeneNc_uc010fjz_1
5	lnc-LIMS3.1-2	chr2:110595460-110595619	NONHSAT073153

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RGPD5	hsa-miR-335-5p	chr2:110614364-110614387
2	RGPD6	hsa-miR-15a-5p	chr2:110614843-110614864
3	RGPD6	hsa-miR-15a-5p	chr2:110615252-110615272

Variant related genes	Relation type
RGPD5	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112178381	chr2:110564671-110564672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2918665	chr2:110572702-110572703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs28589309	chr2:110572744-110572745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2918664	chr2:110572752-110572753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150007575	chr2:110572888-110572889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2438862	chr2:110572971-110572972	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111968970	chr2:110574953-110574954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2673122	chr2:110574954-110574955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62163513	chr2:110591985-110591986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs55711961	chr2:110595885-110595886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	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