Variant report

Variant	nsv933111
Chromosome Location	chrX:79944871-79948191
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:79945916..79948256-chrX:79950332..79951865,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547293665	chrX:79944916-79944917	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528234282	chrX:79945013-79945014	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180932617	chrX:79945030-79945031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs151030815	chrX:79945138-79945139	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141962222	chrX:79945329-79945330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370728871	chrX:79945375-79945376	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374430034	chrX:79945385-79945386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368487981	chrX:79945426-79945427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201368637	chrX:79945545-79945546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201773230	chrX:79945587-79945588	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142470539	chrX:79945902-79945903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185974935	chrX:79945924-79945925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12840808	chrX:79946072-79946073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190696262	chrX:79946150-79946151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370127946	chrX:79946171-79946172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144713971	chrX:79946201-79946202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551123213	chrX:79946263-79946264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183428806	chrX:79946386-79946387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372250213	chrX:79946504-79946505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186335290	chrX:79946519-79946520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190510049	chrX:79946526-79946527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200025344	chrX:79946531-79946532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374172860	chrX:79946537-79946538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73502699	chrX:79946538-79946539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150692884	chrX:79946554-79946555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371870737	chrX:79946691-79946692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187812394	chrX:79947099-79947100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12689192	chrX:79947186-79947187	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375217103	chrX:79947298-79947299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192375866	chrX:79947311-79947312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201980709	chrX:79947319-79947320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183157250	chrX:79947435-79947436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201910124	chrX:79947504-79947505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187993255	chrX:79947558-79947559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372374523	chrX:79947589-79947590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140203774	chrX:79947595-79947596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371135346	chrX:79947634-79947635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200943021	chrX:79947649-79947650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202096136	chrX:79947656-79947657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192291441	chrX:79947670-79947671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377084103	chrX:79947671-79947672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369807002	chrX:79947677-79947678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374553482	chrX:79947680-79947681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185081878	chrX:79947731-79947732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113241590	chrX:79947833-79947834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150338848	chrX:79947993-79947994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111676150	chrX:79948164-79948165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
Acute myeloid leukemia	20729466	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
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79922800-79949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:79926200-79978000	Weak transcription	NH-A	brain
3	chrX:79928600-79955000	Weak transcription	Hela-S3	cervix
4	chrX:79928600-79962000	Weak transcription	Fetal Brain Female	brain
5	chrX:79928800-79954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chrX:79929000-79949600	Weak transcription	Brain Angular Gyrus	brain
7	chrX:79929800-79949400	Weak transcription	Fetal Muscle Trunk	muscle
8	chrX:79930400-79945400	Weak transcription	NHLF	lung
9	chrX:79930400-79949600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chrX:79930400-79953400	Weak transcription	Rectal Smooth Muscle	rectum
11	chrX:79930600-79949400	Weak transcription	Esophagus	oesophagus
12	chrX:79930600-79949400	Weak transcription	Fetal Intestine Small	intestine
13	chrX:79930600-79949400	Weak transcription	Thymus	Thymus
14	chrX:79930600-79949400	Weak transcription	Spleen	Spleen
15	chrX:79930600-79949800	Weak transcription	Gastric	stomach
16	chrX:79930600-79953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chrX:79930600-79955200	Weak transcription	Brain Cingulate Gyrus	brain
18	chrX:79930600-79959800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chrX:79930800-79946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chrX:79930800-79962400	Weak transcription	Right Ventricle	heart
21	chrX:79930800-79987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chrX:79931000-79947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chrX:79931000-79949000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chrX:79931000-79949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chrX:79931000-79949600	Weak transcription	Aorta	Aorta
26	chrX:79931000-79955800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chrX:79931000-79971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chrX:79931000-79982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chrX:79931200-79949400	Weak transcription	Lung	lung
30	chrX:79931200-79954800	Weak transcription	HMEC	breast
31	chrX:79931200-79960600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chrX:79931200-79985600	Weak transcription	A549	lung
33	chrX:79931400-79948000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chrX:79931800-79950800	Strong transcription	Liver	Liver
35	chrX:79932400-79947800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chrX:79932600-79949400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chrX:79932600-79949600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chrX:79932800-79949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chrX:79932800-79953400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chrX:79932800-79964200	Weak transcription	Colon Smooth Muscle	Colon
41	chrX:79932800-79984800	Weak transcription	Brain Anterior Caudate	brain
42	chrX:79933000-79961000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chrX:79933000-79972200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chrX:79933400-79972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chrX:79933400-79984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chrX:79934200-79949600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chrX:79934600-79949600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chrX:79934600-79950200	Weak transcription	Brain Hippocampus Middle	brain
49	chrX:79934600-79975200	Weak transcription	GM12878-XiMat	blood
50	chrX:79934800-79949400	Weak transcription	Ovary	ovary

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