Variant report

Variant	nsv521021
Chromosome Location	chrX:138642393-138648526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:88314358..88316144-chrX:138642872..138645193,2	MCF-7	breast:
2	chrX:137857443..137858431-chrX:138641744..138642437,4	MCF-7	breast:
3	chrX:138208424..138209008-chrX:138641536..138642500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222724	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370713	chrX:138642393-138642394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202234618	chrX:138642470-138642471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4149748	chrX:138642471-138642472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs413536	chrX:138642509-138642510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs5954898	chrX:138642664-138642665	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3117455	chrX:138642806-138642807	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375190291	chrX:138642863-138642864	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs267606792	chrX:138642931-138642932	Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200608775	chrX:138642945-138642946	Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs137852246	chrX:138642980-138642981	Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369663799	chrX:138642984-138642985	Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1800455	chrX:138642995-138642996	Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199844858	chrX:138643010-138643011	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs137852247	chrX:138643011-138643012	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373141332	chrX:138643018-138643019	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376791906	chrX:138643032-138643033	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144516466	chrX:138643110-138643111	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369865250	chrX:138643155-138643156	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4149749	chrX:138643225-138643226	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183565089	chrX:138643414-138643415	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4149750	chrX:138643416-138643417	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188251960	chrX:138643519-138643520	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192786392	chrX:138643703-138643704	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs137852279	chrX:138643716-138643717	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs137852248	chrX:138643724-138643725	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs137852249	chrX:138643725-138643726	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs137852250	chrX:138643736-138643737	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369841886	chrX:138643748-138643749	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1801202	chrX:138643751-138643752	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs137852251	chrX:138643761-138643762	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373107855	chrX:138643810-138643811	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150351950	chrX:138643811-138643812	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528270752	chrX:138643813-138643814	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs137852252	chrX:138643842-138643843	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs137852253	chrX:138643853-138643854	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs137852254	chrX:138643869-138643870	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145026483	chrX:138643873-138643874	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs387906482	chrX:138643875-138643876	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147567879	chrX:138643892-138643893	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs137852255	chrX:138643902-138643903	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs137852256	chrX:138643908-138643909	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs137852257	chrX:138643913-138643914	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137852275	chrX:138643914-138643915	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs387906479	chrX:138643932-138643933	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113427375	chrX:138643936-138643937	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112057482	chrX:138643939-138643940	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34698779	chrX:138643954-138643955	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs137852271	chrX:138643964-138643965	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs137852258	chrX:138643979-138643980	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs137852259	chrX:138643980-138643981	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
lymphocytic leukemia	21291569	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
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	17603634	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Hereditary coagulopathy	21993689	CNVD
Cerebellar atrophy	21569638	CNVD
Fragile x	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138640600-138642600	Weak transcription	Liver	Liver
2	chrX:138641800-138642400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chrX:138641800-138642600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chrX:138642000-138642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chrX:138642000-138642400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chrX:138642000-138643000	Enhancers	HSMM	muscle
7	chrX:138642600-138645800	Strong transcription	Liver	Liver
8	chrX:138645800-138647800	Weak transcription	Liver	Liver
9	chrX:138647800-138648400	Strong transcription	Liver	Liver
10	chrX:138648400-138650200	Weak transcription	Liver	Liver

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