Variant report

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	rs34215893	chrX:5073527-5073528	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200699622	chrX:5073528-5073529	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs398069092	chrX:5073529-5073530	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Alcoholism	21790672	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5073000-5073800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chrX:5073200-5073800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:5073200-5073800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chrX:5073200-5073800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chrX:5073200-5074000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:5073200-5074000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chrX:5073200-5074000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chrX:5073200-5074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:5073200-5074800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chrX:5073200-5075400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:5073400-5073800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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