Variant report

Variant	nsv932695
Chromosome Location	chrX:31658889-31683682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:30954183..30954687-chrX:31676252..31677226,2	MCF-7	breast:
2	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
3	chr21:9824692..9827129-chrX:31658009..31660080,2	MCF-7	breast:
4	chr22:21979310..21981506-chrX:31657956..31659478,2	K562	blood:
5	chrX:31056385..31057531-chrX:31676225..31677578,5	MCF-7	breast:
6	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:

Variant related genes	Relation type
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6628622	chrX:31658934-31658935	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143792789	chrX:31658975-31658976	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs146859166	chrX:31659021-31659022	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139603242	chrX:31659046-31659047	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150016701	chrX:31659047-31659048	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs5971584	chrX:31659297-31659298	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112070597	chrX:31659298-31659299	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192627500	chrX:31659346-31659347	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183393640	chrX:31659403-31659404	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188376428	chrX:31659410-31659411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191902664	chrX:31659432-31659433	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112758371	chrX:31659434-31659435	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145799154	chrX:31659450-31659451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11354755	chrX:31659463-31659464	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184377505	chrX:31659513-31659514	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368132787	chrX:31659698-31659699	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145167360	chrX:31659868-31659869	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564676946	chrX:31659922-31659923	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568907732	chrX:31659973-31659974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189200612	chrX:31660021-31660022	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192600451	chrX:31660425-31660426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149142481	chrX:31660527-31660528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143163375	chrX:31660558-31660559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367764867	chrX:31660730-31660731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550422629	chrX:31660762-31660763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183562317	chrX:31660792-31660793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372590939	chrX:31660818-31660819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555103275	chrX:31660839-31660840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573495853	chrX:31660842-31660843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568816111	chrX:31660941-31660942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189595934	chrX:31660989-31660990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181245557	chrX:31661005-31661006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185072068	chrX:31661025-31661026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16989740	chrX:31661042-31661043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373925485	chrX:31661050-31661051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377242190	chrX:31661058-31661059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189581867	chrX:31661084-31661085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186746966	chrX:31670719-31670720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12848049	chrX:31670742-31670743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532405522	chrX:31670823-31670824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145279210	chrX:31670824-31670825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375964748	chrX:31670846-31670847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191597808	chrX:31671034-31671035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151013197	chrX:31671059-31671060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182338374	chrX:31671354-31671355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187053831	chrX:31671375-31671376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12013256	chrX:31671389-31671390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113743650	chrX:31673003-31673004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186891912	chrX:31673043-31673044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191742355	chrX:31673049-31673050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	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
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31660400-31661200	Enhancers	HUVEC	blood vessel
2	chrX:31670600-31671200	Enhancers	Fetal Intestine Large	intestine
3	chrX:31670800-31671400	Enhancers	Liver	Liver
4	chrX:31671000-31671400	Enhancers	Fetal Intestine Small	intestine
5	chrX:31673000-31679600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chrX:31674000-31674400	Enhancers	Hela-S3	cervix
7	chrX:31674400-31676200	Weak transcription	Hela-S3	cervix
8	chrX:31676200-31676400	Enhancers	Hela-S3	cervix
9	chrX:31678200-31679800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chrX:31678400-31679800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chrX:31679400-31680000	Enhancers	Fetal Heart	heart
12	chrX:31679600-31679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chrX:31679600-31679800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chrX:31679800-31680000	Bivalent Enhancer	Fetal Brain Male	brain
15	chrX:31679800-31681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chrX:31680800-31681400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chrX:31681000-31681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chrX:31681400-31682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chrX:31682200-31682600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chrX:31682200-31683200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chrX:31682800-31683000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:31682800-31683200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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