Variant report

Variant	nsv931956
Chromosome Location	chrX:57956403-58544094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1832)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chrX:58512522-58512722	K562	blood:	n/a	n/a
2	BACH1	chrX:58485869-58486244	K562	blood:	n/a	n/a
3	BACH1	chrX:58387432-58387632	K562	blood:	n/a	n/a
4	BACH1	chrX:58449360-58449495	K562	blood:	n/a	n/a
5	BACH1	chrX:58203033-58203042	K562	blood:	n/a	n/a
6	BACH1	chrX:58514230-58514428	K562	blood:	n/a	n/a
7	BACH1	chrX:58455801-58455896	K562	blood:	n/a	n/a
8	BACH1	chrX:58415284-58415656	K562	blood:	n/a	n/a
9	BATF	chrX:58521231-58521480	GM12878	blood:	n/a	n/a
10	BATF	chrX:58530207-58530366	GM12878	blood:	n/a	n/a
11	BATF	chrX:58510725-58510920	GM12878	blood:	n/a	n/a
12	BATF	chrX:58389396-58389600	GM12878	blood:	n/a	n/a
13	BATF	chrX:58515994-58516197	GM12878	blood:	n/a	n/a
14	BATF	chrX:58510723-58510882	GM12878	blood:	n/a	n/a
15	BATF	chrX:58373787-58373966	GM12878	blood:	n/a	n/a
16	BATF	chrX:58514624-58514959	GM12878	blood:	n/a	n/a
17	BATF	chrX:58507888-58508134	GM12878	blood:	n/a	n/a
18	BATF	chrX:58521299-58521480	GM12878	blood:	n/a	n/a
19	BATF	chrX:58527372-58527618	GM12878	blood:	n/a	n/a
20	BATF	chrX:58507904-58508131	GM12878	blood:	n/a	n/a
21	BATF	chrX:58528429-58528682	GM12878	blood:	n/a	n/a
22	BATF	chrX:58488965-58489165	GM12878	blood:	n/a	n/a
23	BATF	chrX:58330600-58330757	GM12878	blood:	n/a	n/a
24	BATF	chrX:58527388-58527615	GM12878	blood:	n/a	n/a
25	BATF	chrX:58415374-58415523	GM12878	blood:	n/a	n/a
26	BATF	chrX:58528419-58528643	GM12878	blood:	n/a	n/a
27	BATF	chrX:58508935-58509159	GM12878	blood:	n/a	n/a
28	BATF	chrX:58530209-58530404	GM12878	blood:	n/a	n/a
29	BATF	chrX:58373681-58373958	GM12878	blood:	n/a	n/a
30	BATF	chrX:58508945-58509198	GM12878	blood:	n/a	n/a
31	BATF	chrX:58501424-58501611	GM12878	blood:	n/a	n/a
32	BATF	chrX:58330503-58330754	GM12878	blood:	n/a	n/a
33	BATF	chrX:58512542-58512756	GM12878	blood:	n/a	n/a
34	BATF	chrX:58514751-58514904	GM12878	blood:	n/a	n/a
35	BATF	chrX:58535179-58535401	GM12878	blood:	n/a	n/a
36	BATF	chrX:58535054-58535403	GM12878	blood:	n/a	n/a
37	BCL11A	chrX:58521239-58521433	GM12878	blood:	n/a	n/a
38	BCL11A	chrX:58522356-58522643	GM12878	blood:	n/a	n/a
39	BCL11A	chrX:58528397-58528696	GM12878	blood:	n/a	n/a
40	BCL11A	chrX:58508929-58509172	GM12878	blood:	n/a	n/a
41	BCL11A	chrX:58530103-58530468	GM12878	blood:	n/a	n/a
42	BCL11A	chrX:58510619-58510984	GM12878	blood:	n/a	n/a
43	BCL11A	chrX:58375753-58375888	GM12878	blood:	n/a	n/a
44	BCL11A	chrX:58535071-58535413	GM12878	blood:	n/a	n/a
45	BCL11A	chrX:58373773-58373968	GM12878	blood:	n/a	n/a
46	BCL11A	chrX:58521146-58521373	GM12878	blood:	n/a	n/a
47	BCL11A	chrX:58508913-58509212	GM12878	blood:	n/a	n/a
48	BCL11A	chrX:58527428-58527628	GM12878	blood:	n/a	n/a
49	BCL11A	chrX:58530218-58530360	GM12878	blood:	n/a	n/a
50	BCL11A	chrX:58375735-58375957	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:58004194..58004775-chrX:58052093..58052663,2	MCF-7	breast:
2	chrX:58051145..58053893-chrX:58055394..58057423,2	K562	blood:
3	chrX:58017270..58019235-chrX:58019335..58021526,2	MCF-7	breast:
4	chrX:57847913..57848811-chrX:58052114..58052903,5	MCF-7	breast:
5	chrX:57848736..57850264-chrX:57955258..57957705,2	MCF-7	breast:
6	chr1:40362047..40364934-chrX:57958759..57961762,4	K562	blood:
7	chr20:30192642..30193584-chrX:58010834..58011691,2	Hela-S3	cervix:
8	chrX:57847837..57849053-chrX:57955600..57956476,4	MCF-7	breast:
9	chrX:58004467..58005037-chrX:58052208..58053008,2	MCF-7	breast:
10	chrX:58051145..58053893-chrX:58055394..58057423,2	K562	blood:
11	chrX:58004467..58005037-chrX:58052208..58053008,2	MCF-7	breast:
12	chr1:40362047..40364220-chrX:57958759..57960282,2	K562	blood:
13	chrX:58004194..58004775-chrX:58052093..58052663,2	MCF-7	breast:
14	chrX:58017270..58019235-chrX:58019335..58021526,2	MCF-7	breast:
15	chrX:57847862..57848818-chrX:58052130..58053088,3	MCF-7	breast:
16	chr17:59628301..59629147-chrX:58339728..58340665,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYCLP2	TF binding region
KRT8P17	TF binding region
ENSG00000125968	chromatin interactions
ENSG00000236546	chromatin interactions

Extended variants
information (count: 6803 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:6803 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190754347	chrX:57956521-57956522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142916232	chrX:57956774-57956775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182983466	chrX:57956793-57956794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542773260	chrX:57956819-57956820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200016287	chrX:57956851-57956852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78554588	chrX:57956856-57956857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5988954	chrX:57957041-57957042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555082690	chrX:57957048-57957049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370063841	chrX:57957077-57957078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187322923	chrX:57957111-57957112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191774109	chrX:57957154-57957155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148756449	chrX:57957244-57957245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142322541	chrX:57957329-57957330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182788770	chrX:57957490-57957491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187902049	chrX:57957654-57957655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5988690	chrX:57957667-57957668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573736289	chrX:57957735-57957736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376488912	chrX:57957789-57957790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192190025	chrX:57957924-57957925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185770535	chrX:57957962-57957963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2890374	chrX:57958100-57958101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189234643	chrX:57958176-57958177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192230210	chrX:57958187-57958188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184294287	chrX:57958233-57958234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565017197	chrX:57958263-57958264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188720479	chrX:57958280-57958281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181371317	chrX:57958551-57958552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144519329	chrX:57958571-57958572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576994320	chrX:57958655-57958656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73520873	chrX:57958701-57958702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186227008	chrX:57958847-57958848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62598159	chrX:57958985-57958986	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146995822	chrX:57959012-57959013	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73520874	chrX:57959093-57959094	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563813951	chrX:57959217-57959218	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs5988955	chrX:57959302-57959303	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs5988956	chrX:57959308-57959309	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541276401	chrX:57959355-57959356	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370292908	chrX:57959383-57959384	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11796845	chrX:57959407-57959408	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148198815	chrX:57959444-57959445	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549451914	chrX:57959521-57959522	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559674182	chrX:57959547-57959548	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189553696	chrX:57959770-57959771	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180793061	chrX:57959955-57959956	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187624666	chrX:57960164-57960165	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191004966	chrX:57960226-57960227	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533272699	chrX:57960258-57960259	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183200162	chrX:57960418-57960419	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561291599	chrX:57960574-57960575	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Ovarian cancer	19835627	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57948600-57958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chrX:57958800-57959200	Enhancers	Left Ventricle	heart
3	chrX:57958800-57959400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chrX:57959000-57960800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chrX:57959400-57959800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chrX:57959800-57960000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chrX:57977000-57977600	Enhancers	Dnd41	blood
8	chrX:57977000-57979400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chrX:57977000-57979800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chrX:57977000-57979800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chrX:57977200-57977800	Enhancers	Primary B cells from cord blood	blood
12	chrX:57977200-57979400	Enhancers	Primary B cells from peripheral blood	blood
13	chrX:57977400-57977800	Enhancers	Primary hematopoietic stem cells	blood
14	chrX:57977600-57978000	Enhancers	Adipose Nuclei	Adipose
15	chrX:57977600-57978000	Flanking Active TSS	Dnd41	blood
16	chrX:57977600-57978200	Enhancers	Spleen	Spleen
17	chrX:57977600-57979000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chrX:57977800-57978800	Enhancers	Left Ventricle	heart
19	chrX:57977800-57979000	Weak transcription	Primary hematopoietic stem cells	blood
20	chrX:57978000-57978400	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chrX:57978000-57978400	Enhancers	Dnd41	blood
22	chrX:57978000-57978800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chrX:57978000-57979200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chrX:57978200-57978600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chrX:57978200-57978600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chrX:57978200-57978800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chrX:57978200-57978800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chrX:57978200-57979200	Weak transcription	Spleen	Spleen
29	chrX:57978400-57978800	Flanking Active TSS	Dnd41	blood
30	chrX:57978600-57979000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chrX:57978800-57979200	Enhancers	Dnd41	blood
32	chrX:57979000-57979600	Enhancers	Primary hematopoietic stem cells	blood
33	chrX:57979200-57979400	Enhancers	Spleen	Spleen
34	chrX:57979200-57979400	Flanking Active TSS	Dnd41	blood
35	chrX:57979400-57979800	Enhancers	Dnd41	blood
36	chrX:57989600-57990400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chrX:58011000-58012600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chrX:58056400-58058600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chrX:58056800-58058000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chrX:58056800-58058400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chrX:58056800-58058600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chrX:58056800-58059000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chrX:58056800-58059000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chrX:58057000-58058600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chrX:58057200-58057400	Enhancers	Dnd41	blood
46	chrX:58057200-58058600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chrX:58057400-58057600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chrX:58057400-58058000	Weak transcription	Dnd41	blood
49	chrX:58057400-58058800	Enhancers	Primary T cells fromperipheralblood	blood
50	chrX:58058000-58058600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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