Variant report

Variant	nsv523207
Chromosome Location	chrX:29868181-29887933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:29880273..29882962-chrX:29889198..29890836,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377254797	chrX:29869802-29869803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142169855	chrX:29869820-29869821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191057068	chrX:29869863-29869864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5973192	chrX:29869968-29869969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6418616	chrX:29870013-29870014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182155183	chrX:29870083-29870084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7883812	chrX:29870365-29870366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201999200	chrX:29870445-29870446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143596185	chrX:29870513-29870514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75867872	chrX:29870609-29870610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147992725	chrX:29870618-29870619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142350083	chrX:29870646-29870647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7887452	chrX:29870776-29870777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138561669	chrX:29870777-29870778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200205187	chrX:29870786-29870787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185193958	chrX:29870809-29870810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201391595	chrX:29870925-29870926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373388444	chrX:29870988-29870989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199664423	chrX:29871013-29871014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190007763	chrX:29871240-29871241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183298113	chrX:29871262-29871263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188177311	chrX:29871275-29871276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377697733	chrX:29871278-29871279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199847073	chrX:29871306-29871307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35378764	chrX:29871308-29871309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78881501	chrX:29871324-29871325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193132575	chrX:29871521-29871522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142974504	chrX:29871537-29871538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150659885	chrX:29871584-29871585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146209871	chrX:29871673-29871674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183591551	chrX:29871772-29871773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187829920	chrX:29871847-29871848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139859734	chrX:29871861-29871862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35454201	chrX:29871963-29871964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573209188	chrX:29871999-29872000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146755400	chrX:29880424-29880425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148824318	chrX:29880493-29880494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142488316	chrX:29880534-29880535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113022991	chrX:29880583-29880584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150961085	chrX:29880608-29880609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34670707	chrX:29880706-29880707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202178342	chrX:29880777-29880778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111959829	chrX:29886796-29886797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373678518	chrX:29886801-29886802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188355273	chrX:29886857-29886858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191650787	chrX:29886914-29886915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184793243	chrX:29886985-29886986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12116066	chrX:29887055-29887056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189994266	chrX:29887082-29887083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141763159	chrX:29887285-29887286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Mental retardation	20848651	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29869800-29871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:29869800-29872000	Enhancers	Brain Hippocampus Middle	brain
3	chrX:29870000-29870400	Enhancers	Brain Cingulate Gyrus	brain
4	chrX:29870000-29871000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chrX:29870000-29871800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chrX:29870800-29871400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chrX:29871000-29871600	Enhancers	Adipose Nuclei	Adipose
8	chrX:29880400-29880800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:29886600-29890200	Weak transcription	Brain Hippocampus Middle	brain

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