Variant report

Variant	esv3401556
Chromosome Location	chrX:29783631-29785979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191939855	chrX:29783707-29783708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148462525	chrX:29784004-29784005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182540697	chrX:29784093-29784094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185868301	chrX:29784108-29784109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142615788	chrX:29784127-29784128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369317349	chrX:29784173-29784174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191120134	chrX:29784301-29784302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182528668	chrX:29784306-29784307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113157968	chrX:29784442-29784443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201592167	chrX:29784459-29784460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60905461	chrX:29784460-29784461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138709831	chrX:29784477-29784478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201559250	chrX:29784481-29784482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57656353	chrX:29784535-29784536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372893600	chrX:29784566-29784567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145689166	chrX:29784572-29784573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72187911	chrX:29784596-29784597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190426080	chrX:29784661-29784662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7471997	chrX:29784769-29784770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7471998	chrX:29784771-29784772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6630954	chrX:29784789-29784790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199758857	chrX:29784796-29784797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6151278	chrX:29784814-29784815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183000858	chrX:29784895-29784896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188787184	chrX:29784918-29784919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6630955	chrX:29785084-29785085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193055376	chrX:29785112-29785113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184121648	chrX:29785114-29785115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187476023	chrX:29785518-29785519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558282795	chrX:29785647-29785648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7061532	chrX:29785731-29785732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377597935	chrX:29785749-29785750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139601553	chrX:29785846-29785847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111743148	chrX:29785882-29785883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6526926	chrX:29785891-29785892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	21858162	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
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Mental retardation	20613765	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29781000-29793000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chrX:29781200-29783800	Weak transcription	Brain Hippocampus Middle	brain
3	chrX:29782800-29785000	Weak transcription	Fetal Heart	heart
4	chrX:29783800-29784000	Enhancers	Brain Hippocampus Middle	brain
5	chrX:29785000-29785200	Enhancers	Fetal Heart	heart

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