Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:73565140-73565252	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73564172..73566184-chrX:73572530..73575496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226515	TF binding region

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34165823	chrX:73565143-73565144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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	19602461	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73563600-73568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chrX:73564000-73565400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:73564000-73565600	Weak transcription	Primary hematopoietic stem cells	blood
4	chrX:73564600-73565200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chrX:73564600-73565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chrX:73564600-73565600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chrX:73564600-73565600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chrX:73564600-73565800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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