Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:104157818..104158550-chrX:104166893..104167424,2	MCF-7	breast:

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202006552	chrX:104157983-104157984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57174340	chrX:104157984-104157985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Pancreatic cancer	17952125	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104155400-104158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chrX:104155400-104158200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chrX:104155400-104158200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chrX:104155400-104158200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chrX:104157200-104158400	Enhancers	Fetal Heart	heart
6	chrX:104157800-104158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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