Variant report

Variant	esv3484415
Chromosome Location	chrX:109938534-109942212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73260106	chrX:109938577-109938578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182512151	chrX:109938585-109938586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186383094	chrX:109938765-109938766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538559336	chrX:109938866-109938867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200652763	chrX:109938931-109938932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148706011	chrX:109938932-109938933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375114419	chrX:109938933-109938934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201954489	chrX:109938935-109938936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138212593	chrX:109938961-109938962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559655700	chrX:109939157-109939158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149599477	chrX:109939161-109939162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5943057	chrX:109939205-109939206	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
13	rs5985543	chrX:109939459-109939460	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574493181	chrX:109939499-109939500	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190996442	chrX:109939522-109939523	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182769194	chrX:109939593-109939594	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540282607	chrX:109939698-109939699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188979457	chrX:109939834-109939835	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370230822	chrX:109939873-109939874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376832610	chrX:109939990-109939991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7060124	chrX:109940046-109940047	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs5985544	chrX:109940195-109940196	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150908848	chrX:109940241-109940242	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376065164	chrX:109940258-109940259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5985545	chrX:109940296-109940297	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs193136933	chrX:109940349-109940350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5985546	chrX:109940577-109940578	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201896497	chrX:109940674-109940675	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183341394	chrX:109940834-109940835	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187269642	chrX:109940891-109940892	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113730370	chrX:109940995-109940996	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375895362	chrX:109941001-109941002	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149701448	chrX:109941005-109941006	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192102320	chrX:109941010-109941011	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368507498	chrX:109941054-109941055	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183824696	chrX:109941061-109941062	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189745167	chrX:109941071-109941072	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60454872	chrX:109941092-109941093	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12833323	chrX:109941096-109941097	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12832128	chrX:109941099-109941100	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192707580	chrX:109941149-109941150	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12833641	chrX:109941159-109941160	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12833655	chrX:109941171-109941172	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184454740	chrX:109941188-109941189	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532497844	chrX:109941221-109941222	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144482516	chrX:109941332-109941333	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73528205	chrX:109941366-109941367	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142595939	chrX:109941373-109941374	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373238140	chrX:109941379-109941380	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56133534	chrX:109941441-109941442	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109919400-109948800	Weak transcription	Adipose Nuclei	Adipose
2	chrX:109935400-109939200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chrX:109936800-109941000	Weak transcription	Fetal Thymus	thymus
4	chrX:109937000-109940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chrX:109937200-109941200	Weak transcription	Primary hematopoietic stem cells	blood
6	chrX:109937400-109940800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chrX:109939200-109939600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:109939600-109943400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chrX:109940400-109940800	Enhancers	GM12878-XiMat	blood
10	chrX:109940800-109941200	Weak transcription	GM12878-XiMat	blood
11	chrX:109940800-109942400	Enhancers	Dnd41	blood
12	chrX:109940800-109942600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chrX:109940800-109942600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:109941000-109941600	Enhancers	Fetal Thymus	thymus
15	chrX:109941200-109942600	Enhancers	Primary hematopoietic stem cells	blood
16	chrX:109941200-109942600	Enhancers	GM12878-XiMat	blood
17	chrX:109941800-109942200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chrX:109941800-109942200	Enhancers	Stomach Mucosa	stomach
19	chrX:109942200-109942600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chrX:109942200-109942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chrX:109942200-109942600	Enhancers	NHDF-Ad	bronchial

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