Variant report

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	rs2375631	chrX:56276906-56276907	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Mental retardation	21735175	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56259800-56316200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56260200-56280600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chrX:56261000-56291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chrX:56261600-56291600	Weak transcription	Esophagus	oesophagus
5	chrX:56266400-56289200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:56269400-56320200	Weak transcription	Brain Germinal Matrix	brain
7	chrX:56270800-56291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chrX:56273400-56291600	Weak transcription	Primary B cells from peripheral blood	blood
9	chrX:56275000-56280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chrX:56275000-56305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chrX:56275000-56316200	Weak transcription	Colon Smooth Muscle	Colon
12	chrX:56275200-56281000	Weak transcription	Ovary	ovary
13	chrX:56275400-56279800	Weak transcription	Liver	Liver
14	chrX:56275400-56280800	Weak transcription	Adipose Nuclei	Adipose
15	chrX:56275400-56296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chrX:56277000-56280600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

Quick Search: