Variant report

Variant	nsv522938
Chromosome Location	chrX:5866623-5913762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 771 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5961896	chrX:5866623-5866624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552309012	chrX:5866722-5866723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565658525	chrX:5866800-5866801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144048483	chrX:5866808-5866809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368776873	chrX:5866909-5866910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6529903	chrX:5867241-5867242	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184259328	chrX:5867264-5867265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144540133	chrX:5867409-5867410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189066521	chrX:5867414-5867415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373374452	chrX:5867575-5867576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377639615	chrX:5867622-5867623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76040315	chrX:5867779-5867780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191536574	chrX:5867781-5867782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1921363	chrX:5867836-5867837	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113108464	chrX:5867842-5867843	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184062016	chrX:5867880-5867881	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536562696	chrX:5868037-5868038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1921364	chrX:5868044-5868045	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188979240	chrX:5868045-5868046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7879993	chrX:5868053-5868054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180927182	chrX:5868224-5868225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13440986	chrX:5868311-5868312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150945064	chrX:5868392-5868393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140781815	chrX:5868495-5868496	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112515474	chrX:5868508-5868509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190559866	chrX:5868619-5868620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565079434	chrX:5868626-5868627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377755046	chrX:5868683-5868684	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182035469	chrX:5868803-5868804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371554009	chrX:5868821-5868822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572403914	chrX:5868864-5868865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34299766	chrX:5868866-5868867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185967723	chrX:5868962-5868963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190724492	chrX:5869017-5869018	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373617894	chrX:5869070-5869071	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112121906	chrX:5869105-5869106	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145823401	chrX:5869176-5869177	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7888738	chrX:5869285-5869286	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182511819	chrX:5869335-5869336	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186596251	chrX:5869397-5869398	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7888612	chrX:5869407-5869408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199542675	chrX:5869408-5869409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191348108	chrX:5869427-5869428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182836162	chrX:5869583-5869584	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187688003	chrX:5869620-5869621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192427191	chrX:5869832-5869833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5961897	chrX:5869966-5869967	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532387096	chrX:5870085-5870086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374118737	chrX:5870153-5870154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542936033	chrX:5870197-5870198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
short stature	22470819	CNVD
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	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
Pancreatic cancer	17952125	CNVD
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD
Abnormal phenotypes	21355048	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5826600-5870400	Weak transcription	Fetal Thymus	thymus
2	chrX:5845400-5869000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chrX:5859600-5867800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chrX:5861000-5870400	Strong transcription	Dnd41	blood
5	chrX:5862600-5877600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chrX:5867800-5868000	Enhancers	H9 Cell Line	embryonic stem cell
7	chrX:5868000-5870400	Enhancers	Ovary	ovary
8	chrX:5869000-5869400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chrX:5869400-5874800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chrX:5870400-5874600	Weak transcription	Ovary	ovary
11	chrX:5870400-5877200	Weak transcription	Dnd41	blood
12	chrX:5874800-5875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chrX:5875600-5876800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chrX:5875600-5876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chrX:5875600-5877200	Enhancers	HSMMtube	muscle
16	chrX:5876600-5877000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chrX:5876800-5877200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chrX:5876800-5877400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chrX:5876800-5877600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chrX:5876800-5877800	Enhancers	HSMM	muscle
21	chrX:5876800-5878400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chrX:5877000-5877400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chrX:5877200-5877600	Strong transcription	Dnd41	blood
24	chrX:5877400-5889800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chrX:5877600-5877800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chrX:5877600-5880000	Weak transcription	Dnd41	blood
27	chrX:5877800-5891200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chrX:5878400-5894400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chrX:5880000-5880800	Strong transcription	Dnd41	blood
30	chrX:5880800-5883000	Weak transcription	Dnd41	blood
31	chrX:5883000-5883600	Genic enhancers	Dnd41	blood
32	chrX:5883600-5887000	Strong transcription	Dnd41	blood
33	chrX:5886200-5887000	Enhancers	H9 Cell Line	embryonic stem cell
34	chrX:5887000-5889200	Weak transcription	Dnd41	blood
35	chrX:5887000-5901000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chrX:5889200-5890200	Strong transcription	Dnd41	blood
37	chrX:5889200-5890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chrX:5889200-5890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chrX:5889200-5890400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chrX:5889400-5889800	Enhancers	Ovary	ovary
41	chrX:5889600-5890200	Enhancers	HSMM	muscle
42	chrX:5889800-5890000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chrX:5889800-5892000	Weak transcription	Ovary	ovary
44	chrX:5890000-5890400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chrX:5890000-5890600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chrX:5890000-5890600	Enhancers	NH-A	brain
47	chrX:5890200-5890400	Enhancers	HSMMtube	muscle
48	chrX:5890200-5892000	Weak transcription	Dnd41	blood
49	chrX:5890400-5891200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:5890600-5891000	Weak transcription	NH-A	brain

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