Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:80368168..80369993-chrX:80375695..80377271,2	K562	blood:

Variant related genes	Relation type
ENSG00000198157	chromatin interactions

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	rs68183777	chrX:80369628-80369629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80366800-80375400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chrX:80367400-80375800	Weak transcription	Brain Substantia Nigra	brain
3	chrX:80368200-80370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chrX:80369000-80375000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:80369400-80375000	Weak transcription	Hela-S3	cervix
6	chrX:80369400-80375200	Weak transcription	HUES6 Cell Line	embryonic stem cell

Quick Search: