Variant report

Variant	esv3417977
Chromosome Location	chrX:104943745-104944239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5962569	chrX:104943804-104943805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144534849	chrX:104943831-104943832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7880905	chrX:104944045-104944046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34513563	chrX:104944060-104944061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181366730	chrX:104944124-104944125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104939000-104946600	Enhancers	Hela-S3	cervix
2	chrX:104940200-104945400	Weak transcription	NHEK	skin
3	chrX:104940400-104945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chrX:104940400-104945200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:104941200-104943800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chrX:104941400-104945400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chrX:104942200-104944800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:104942600-104943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chrX:104942600-104944000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chrX:104943200-104946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chrX:104943400-104946200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:104943600-104944000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chrX:104943800-104946200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chrX:104943800-104946400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chrX:104943800-104946400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chrX:104944000-104944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chrX:104944000-104945800	Enhancers	Muscle Satellite Cultured Cells	--
18	chrX:104944000-104946400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chrX:104944200-104945800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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