Variant report

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3015287	chrX:57634653-57634654	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145741103	chrX:57634708-57634709	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535189555	chrX:57634747-57634748	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs59388326	chrX:57634762-57634763	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568529232	chrX:57634815-57634816	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148381706	chrX:57634822-57634823	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4573421	chrX:57634842-57634843	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529783905	chrX:57634920-57634921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376848954	chrX:57635036-57635037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141558559	chrX:57635126-57635127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368883794	chrX:57635197-57635198	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57633600-57634800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chrX:57633600-57634800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chrX:57633800-57634800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chrX:57634000-57634800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chrX:57634000-57634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chrX:57634400-57634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:57634600-57635000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chrX:57634800-57635200	Enhancers	HUES6 Cell Line	embryonic stem cell

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