Variant report

Variant	esv2125938
Chromosome Location	chrX:5973687-5973692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56156400	chrX:5973687-5973688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112648219	chrX:5973690-5973691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111600780	chrX:5973691-5973692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
short stature	22470819	CNVD
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD
Abnormal phenotypes	21355048	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5959600-5976400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chrX:5960000-6006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chrX:5960200-5976000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chrX:5968000-5988800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chrX:5968400-5980400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chrX:5970200-5976400	Strong transcription	Dnd41	blood
7	chrX:5971600-5974200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chrX:5972400-5974600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chrX:5973600-6021000	Weak transcription	Fetal Thymus	thymus

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