Variant report

Variant	esv2292703
Chromosome Location	chrX:56295439-56295441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 41 )

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	rs59394346	chrX:56295439-56295440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10584898	chrX:56295440-56295441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	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:31 , 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:56269400-56320200	Weak transcription	Brain Germinal Matrix	brain
3	chrX:56275000-56305400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:56275000-56316200	Weak transcription	Colon Smooth Muscle	Colon
5	chrX:56275400-56296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chrX:56279200-56310800	Weak transcription	Aorta	Aorta
7	chrX:56279400-56316800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chrX:56280400-56320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chrX:56286000-56336600	Weak transcription	Left Ventricle	heart
10	chrX:56288800-56295800	Weak transcription	Stomach Smooth Muscle	stomach
11	chrX:56289600-56305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chrX:56290200-56298400	Weak transcription	Rectal Smooth Muscle	rectum
13	chrX:56290200-56299400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chrX:56290200-56314400	Weak transcription	Fetal Intestine Small	intestine
15	chrX:56290400-56296000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chrX:56290800-56297600	Weak transcription	Fetal Brain Female	brain
17	chrX:56291000-56312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chrX:56292200-56295800	Weak transcription	Ovary	ovary
19	chrX:56292200-56297200	Weak transcription	Lung	lung
20	chrX:56292200-56302200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chrX:56292200-56304000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chrX:56292200-56310800	Weak transcription	Fetal Stomach	stomach
23	chrX:56292400-56296000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chrX:56292400-56310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrX:56292800-56299400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chrX:56293400-56296600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chrX:56295200-56296200	Strong transcription	Esophagus	oesophagus
28	chrX:56295200-56299200	Strong transcription	Adipose Nuclei	Adipose
29	chrX:56295400-56295600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chrX:56295400-56295600	Enhancers	HMEC	breast
31	chrX:56295400-56297400	Strong transcription	Primary B cells from peripheral blood	blood

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