Variant report

Variant	esv3363995
Chromosome Location	chrX:74313122-74313469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186429340	chrX:74313178-74313179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191047069	chrX:74313312-74313313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35588051	chrX:74313324-74313325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374609974	chrX:74313363-74313364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371831374	chrX:74313390-74313391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Premature ovarian failure	20952765	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74265800-74316600	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:74270400-74317200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chrX:74295200-74333800	Weak transcription	Fetal Intestine Large	intestine
4	chrX:74295400-74327200	Weak transcription	Duodenum Mucosa	Duodenum
5	chrX:74295400-74333000	Weak transcription	Primary B cells from peripheral blood	blood
6	chrX:74305400-74318200	Weak transcription	GM12878-XiMat	blood
7	chrX:74306600-74330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chrX:74307000-74315000	Weak transcription	Stomach Mucosa	stomach
9	chrX:74307000-74326800	Weak transcription	Left Ventricle	heart
10	chrX:74307200-74314600	Weak transcription	Dnd41	blood
11	chrX:74307200-74317000	Weak transcription	Small Intestine	intestine
12	chrX:74307400-74316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chrX:74308000-74336200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chrX:74308200-74333800	Weak transcription	Liver	Liver
15	chrX:74308800-74317000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chrX:74311000-74316800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chrX:74311200-74314200	Weak transcription	Brain Germinal Matrix	brain
18	chrX:74311800-74336000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chrX:74312000-74329600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chrX:74312600-74313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chrX:74312600-74317600	Weak transcription	Fetal Heart	heart
22	chrX:74313000-74316800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chrX:74313200-74318000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chrX:74313200-74334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chrX:74313400-74326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links