Variant report

Variant	esv3334294
Chromosome Location	chrX:31439231-31441279
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:31436407..31439307-chrX:31440950..31442473,2	K562	blood:
2	chrX:31436407..31439307-chrX:31440950..31442473,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145277514	chrX:31439304-31439305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190710016	chrX:31439312-31439313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149133437	chrX:31439485-31439486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182955355	chrX:31439501-31439502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200464970	chrX:31439566-31439567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187956563	chrX:31439632-31439633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191574857	chrX:31439643-31439644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182709600	chrX:31439662-31439663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187365952	chrX:31439784-31439785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16989619	chrX:31439827-31439828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192241493	chrX:31439973-31439974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369011344	chrX:31439976-31439977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56157177	chrX:31440001-31440002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201760249	chrX:31440018-31440019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371932439	chrX:31440019-31440020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184856614	chrX:31440042-31440043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5927752	chrX:31440051-31440052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189174507	chrX:31440075-31440076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7473903	chrX:31440079-31440080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184647413	chrX:31440081-31440082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7473905	chrX:31440091-31440092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199963011	chrX:31440112-31440113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189219335	chrX:31440119-31440120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199805393	chrX:31440134-31440135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181046241	chrX:31440135-31440136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7890449	chrX:31440143-31440144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7890450	chrX:31440145-31440146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369198579	chrX:31440160-31440161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56161808	chrX:31440161-31440162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374904042	chrX:31440162-31440163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7890659	chrX:31440325-31440326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188812254	chrX:31440365-31440366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145400990	chrX:31440392-31440393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138020032	chrX:31440402-31440403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376949479	chrX:31440436-31440437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141050912	chrX:31440450-31440451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4639662	chrX:31440462-31440463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150109421	chrX:31440595-31440596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181643292	chrX:31440623-31440624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2178617	chrX:31440636-31440637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs67441288	chrX:31440788-31440789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555857391	chrX:31440872-31440873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375837061	chrX:31440978-31440979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187102144	chrX:31441018-31441019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376374218	chrX:31441124-31441125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144450074	chrX:31441146-31441147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31437400-31439400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chrX:31438800-31439400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chrX:31438800-31439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chrX:31438800-31441600	Enhancers	Hela-S3	cervix
5	chrX:31439200-31441600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chrX:31439400-31441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chrX:31439400-31441800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chrX:31439600-31441600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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