Variant report

Variant	esv3430852
Chromosome Location	chrX:55105694-55114440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chrX:55112617-55112890	HepG2	liver:	n/a	n/a
2	CTCF	chrX:55111181-55111280	GM10248	blood:	n/a	n/a
3	CTCF	chrX:55113643-55113744	GM10266	blood:	n/a	n/a
4	CTCF	chrX:55112024-55112123	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chrX:55113400-55113438	GM10248	blood:	n/a	n/a
6	CTCF	chrX:55105940-55105963	LNCaP	prostate:	n/a	n/a
7	CTCF	chrX:55113043-55113085	GM10248	blood:	n/a	n/a
8	POLR2A	chrX:55108476-55108519	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chrX:55105943-55106019	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chrX:55106780-55106926	A549	lung:	n/a	n/a
11	SPI1	chrX:55109156-55109373	K562	blood:	n/a	n/a
12	SPI1	chrX:55109209-55109377	GM12878	blood:	n/a	n/a
13	SPI1	chrX:55109151-55109369	K562	blood:	n/a	n/a
14	SPI1	chrX:55109144-55109376	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:55114262-55114312	GM19239	blood:	n/a
2	chrX:55114262-55114312	AoSMC	blood vessel:	n/a
3	chrX:55114262-55114312	AG04449	skin:	fetal
4	chrX:55114262-55114312	SK-N-SH	brain:	n/a
5	chrX:55114262-55114312	HCPEpiC	choroid plexus:	n/a
6	chrX:55114262-55114312	AG09309	skin:	n/a
7	chrX:55114262-55114312	Caco-2	colon:	n/a
8	chrX:55114262-55114312	HEEpiC	esophagus:	n/a
9	chrX:55114262-55114312	GM12892	blood:	n/a
10	chrX:55114262-55114312	NHDF-neo	bronchial:	n/a
11	chrX:55114262-55114312	GM06990	blood:	n/a
12	chrX:55114262-55114312	MCF10A-Er-Src	breast:	n/a
13	chrX:55114262-55114312	HRE	kidney:	n/a
14	chrX:55114262-55114312	NHBE	bronchial:	n/a
15	chrX:55114262-55114312	AG10803	skin:	n/a
16	chrX:55114262-55114312	PANC-1	pancreas:	n/a
17	chrX:55114262-55114312	ECC-1	luminal epithelium:	n/a
18	chrX:55114262-55114312	HUVEC	blood vessel:	n/a
19	chrX:55114262-55114312	SKMC	muscle:	n/a
20	chrX:55114262-55114312	NH-A	brain:	n/a
21	chrX:55114262-55114312	HRPEpiC	eye:	n/a
22	chrX:55114262-55114312	K562	blood:	n/a
23	chrX:55114262-55114312	NT2-D1	testis:	n/a
24	chrX:55114262-55114312	SK-N-MC	brain:	n/a
25	chrX:55114262-55114312	ProgFib	skin:	n/a
26	chrX:55114262-55114312	GM12878	blood:	n/a
27	chrX:55114262-55114312	HEK293	kidney:	embryo
28	chrX:55114262-55114312	BJ	skin:	n/a
29	chrX:55114262-55114312	BE2_C	brain:	n/a
30	chrX:55114262-55114312	LNCaP	prostate:	n/a
31	chrX:55114262-55114312	Hepatocyte	liver:	n/a
32	chrX:55114262-55114312	IMR90	lung:	fetal
33	chrX:55114262-55114312	SK-N-SH_RA	brain:	n/a
34	chrX:55114262-55114312	HCF	heart:	n/a
35	chrX:55114262-55114312	A549	lung:	n/a
36	chrX:55114262-55114312	AG04450	lung:	fetal
37	chrX:55114262-55114312	HNPCEpiC	eye:	n/a
38	chrX:55114262-55114312	CMK	blood:	n/a
39	chrX:55114262-55114312	HL-60	blood:	n/a
40	chrX:55114262-55114312	AG09319	gingival:	n/a
41	chrX:55114262-55114312	GM12891	blood:	n/a
42	chrX:55114262-55114312	T-47D	breast:	n/a
43	chrX:55114262-55114312	HAEpiC	amniotic membrane:	n/a
44	chrX:55114262-55114312	U87	brain:	n/a
45	chrX:55114262-55114312	PFSK-1	brain:	n/a
46	chrX:55114262-55114312	ovcar-3	ovarian:	n/a
47	chrX:55114262-55114312	HCM	heart:	n/a
48	chrX:55114262-55114312	H1-hESC	embryonic stem cell:	embryo
49	chrX:55114262-55114312	HMEC	breast:	n/a
50	chrX:55114262-55114312	HepG2	liver:	n/a

No data

Variant related genes	Relation type
PAGE2	TF binding region
PAGE2	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183839052	chrX:55112046-55112047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189919456	chrX:55112645-55112646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73490488	chrX:55112739-55112740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182078449	chrX:55112746-55112747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144577300	chrX:55112801-55112802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186328764	chrX:55112845-55112846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190264817	chrX:55112850-55112851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs5913790	chrX:55112890-55112891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185086465	chrX:55113044-55113045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6651979	chrX:55113412-55113413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2453227	chrX:55113413-55113414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113817005	chrX:55113417-55113418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2934730	chrX:55114262-55114263	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs2934731	chrX:55114303-55114304	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Mental retardation	21735175	CNVD

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

No data

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