Variant report

Variant	esv3386096
Chromosome Location	chrX:55083379-55083718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chrX:55083578-55083938	HUVEC	blood vessel:	n/a	n/a
2	JUND	chrX:55083701-55084453	K562	blood:	n/a	n/a
3	POLR2A	chrX:55083480-55083650	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chrX:55083698-55083767	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chrX:55083297-55084663	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chrX:55083562-55083825	K562	blood:	n/a	n/a
7	SMC3	chrX:55083675-55084462	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:54838735..54840805-chrX:55081585..55084393,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234466	TF binding region
ENSG00000221716	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61363105	chrX:55083408-55083409	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4826367	chrX:55083417-55083418	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35733021	chrX:55083462-55083463	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181537627	chrX:55083556-55083557	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369390230	chrX:55083619-55083620	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184377534	chrX:55083702-55083703	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34740791	chrX:55083703-55083704	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55082800-55084600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chrX:55082800-55084600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chrX:55083000-55083400	Enhancers	Primary T cells from cord blood	blood
4	chrX:55083000-55083400	Enhancers	HUVEC	blood vessel
5	chrX:55083000-55083800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chrX:55083000-55083800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chrX:55083000-55084200	Enhancers	Primary T cells fromperipheralblood	blood
8	chrX:55083000-55084200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chrX:55083000-55084200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chrX:55083200-55083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chrX:55083400-55083600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chrX:55083400-55083600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chrX:55083400-55083600	Flanking Active TSS	HUVEC	blood vessel
14	chrX:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:55083400-55083800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chrX:55083400-55083800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chrX:55083400-55084000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chrX:55083400-55084000	Enhancers	Fetal Kidney	kidney
19	chrX:55083400-55084200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chrX:55083400-55084200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:55083400-55084200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chrX:55083400-55084200	Enhancers	Fetal Lung	lung
23	chrX:55083400-55084200	Enhancers	Osteobl	bone
24	chrX:55083400-55084400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chrX:55083400-55084600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chrX:55083400-55085800	Enhancers	K562	blood
27	chrX:55083600-55083800	Enhancers	Primary T cells from cord blood	blood
28	chrX:55083600-55083800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chrX:55083600-55083800	Active TSS	Brain Anterior Caudate	brain
30	chrX:55083600-55083800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chrX:55083600-55083800	Enhancers	Brain Substantia Nigra	brain
32	chrX:55083600-55083800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chrX:55083600-55083800	Enhancers	HUVEC	blood vessel
34	chrX:55083600-55084000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chrX:55083600-55084200	Enhancers	Primary B cells from peripheral blood	blood
36	chrX:55083600-55084200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chrX:55083600-55084200	Enhancers	Adipose Nuclei	Adipose
38	chrX:55083600-55084200	Enhancers	Fetal Brain Male	brain
39	chrX:55083600-55084200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chrX:55083600-55084200	Enhancers	Ovary	ovary
41	chrX:55083600-55084200	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links