Variant report

Variant	esv3352303
Chromosome Location	chrX:6188602-6190500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113606528	chrX:6188631-6188632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144339330	chrX:6188645-6188646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370158798	chrX:6188649-6188650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146721377	chrX:6188782-6188783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148463392	chrX:6188792-6188793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142629027	chrX:6188834-6188835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540446647	chrX:6188874-6188875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185726774	chrX:6188967-6188968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560352218	chrX:6188979-6188980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7064335	chrX:6188992-6188993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549089735	chrX:6189028-6189029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140889382	chrX:6189059-6189060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375781455	chrX:6189124-6189125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190093285	chrX:6189348-6189349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59976283	chrX:6189390-6189391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397701265	chrX:6189391-6189392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181563234	chrX:6189449-6189450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185358265	chrX:6189563-6189564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112371623	chrX:6189608-6189609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4826720	chrX:6189681-6189682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73461323	chrX:6189694-6189695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375924982	chrX:6189749-6189750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556743114	chrX:6189776-6189777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201576527	chrX:6189824-6189825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113328778	chrX:6189848-6189849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201501972	chrX:6189851-6189852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190171174	chrX:6189886-6189887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199711664	chrX:6189910-6189911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111737783	chrX:6190048-6190049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141211396	chrX:6190049-6190050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146964166	chrX:6190111-6190112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181303351	chrX:6190113-6190114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114383048	chrX:6190153-6190154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190955500	chrX:6190292-6190293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4079058	chrX:6190306-6190307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575438779	chrX:6190331-6190332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375993950	chrX:6190349-6190350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184008480	chrX:6190355-6190356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188812981	chrX:6190363-6190364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57480592	chrX:6190385-6190386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1809193	chrX:6190421-6190422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60992289	chrX:6190424-6190425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
short stature	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Abnormal phenotypes	21355048	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Microphthalmia	21572526	CNVD
Steroid sulfatase deficiency	21549014	CNVD
Attention deficit hyperactivity disorder	21355048	CNVD
Ichthyosis	21355048	CNVD
Mental retardation	21355048	CNVD
Immune disease	21076436	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:6188400-6188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chrX:6188400-6189000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chrX:6188400-6190000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chrX:6188600-6188800	Enhancers	H9 Cell Line	embryonic stem cell
5	chrX:6188600-6189200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chrX:6188800-6189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:6188800-6194200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chrX:6189000-6190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chrX:6189200-6190000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chrX:6190000-6190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chrX:6190000-6190400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chrX:6190000-6190400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chrX:6190200-6196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chrX:6190400-6194000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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