Variant report

Variant	esv3399105
Chromosome Location	chrX:64505980-64586980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chrX:64520272-64520693	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chrX:64554722-64554914	K562	blood:	n/a	n/a
3	CEBPB	chrX:64523837-64524062	IMR90	lung:	n/a	n/a
4	CEBPB	chrX:64523684-64523978	HepG2	liver:	n/a	chrX:64523739-64523750
5	CTCF	chrX:64517608-64517685	LNCaP	prostate:	n/a	n/a
6	CTCF	chrX:64559181-64559260	GM10266	blood:	n/a	n/a
7	CTCF	chrX:64576168-64576253	HepG2	liver:	n/a	n/a
8	CTCF	chrX:64576173-64576282	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chrX:64576160-64576310	NB4	blood:	n/a	n/a
10	CTCF	chrX:64520454-64520706	HepG2	liver:	n/a	n/a
11	CTCF	chrX:64520477-64520670	HepG2	liver:	n/a	n/a
12	CTCF	chrX:64544162-64544240	LNCaP	prostate:	n/a	n/a
13	CTCF	chrX:64576140-64576342	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chrX:64543556-64543603	Lung_OC	lung:	n/a	n/a
15	CTCF	chrX:64546067-64546114	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chrX:64510555-64510591	Lung_OC	lung:	n/a	n/a
17	CTCF	chrX:64584102-64584217	GM10248	blood:	n/a	n/a
18	CTCF	chrX:64535911-64535943	LNCaP	prostate:	n/a	n/a
19	CTCF	chrX:64518754-64518807	GM10266	blood:	n/a	n/a
20	CTCF	chrX:64520520-64520670	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chrX:64576200-64576270	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chrX:64520349-64520698	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrX:64559164-64559180	GM10266	blood:	n/a	n/a
24	CTCF	chrX:64576184-64576235	MCF-7	breast:	n/a	n/a
25	CTCF	chrX:64566820-64566970	HEK293	kidney:	n/a	n/a
26	CTCF	chrX:64520435-64520728	HepG2	liver:	n/a	n/a
27	CTCF	chrX:64566842-64566957	A549	lung:	n/a	n/a
28	CTCF	chrX:64570192-64570260	LNCaP	prostate:	n/a	n/a
29	CTCF	chrX:64574005-64574065	A549	lung:	n/a	n/a
30	CTCF	chrX:64574278-64574401	GM10248	blood:	n/a	n/a
31	CTCF	chrX:64532993-64533010	Fibrobl	skin:	n/a	n/a
32	CTCF	chrX:64576145-64576280	HepG2	liver:	n/a	n/a
33	CTCF	chrX:64574696-64574729	GM20000	blood:	n/a	n/a
34	CTCF	chrX:64517255-64517294	GM20000	blood:	n/a	n/a
35	CTCF	chrX:64576113-64576343	K562	blood:	n/a	n/a
36	CTCF	chrX:64563163-64563207	GM20000	blood:	n/a	n/a
37	CTCF	chrX:64566814-64566988	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chrX:64520594-64520619	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chrX:64566889-64566935	MCF-7	breast:	n/a	n/a
40	CTCF	chrX:64556529-64556614	GM20000	blood:	n/a	n/a
41	CTCF	chrX:64585078-64585168	GM10266	blood:	n/a	n/a
42	CTCF	chrX:64515898-64516043	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chrX:64576186-64576283	Hela-S3	cervix:	n/a	n/a
44	CTCF	chrX:64520355-64520473	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chrX:64554710-64554808	K562	blood:	n/a	n/a
46	EP300	chrX:64519949-64520187	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chrX:64520194-64520587	H1-hESC	embryonic stem cell:	n/a	n/a
48	FAM48A	chrX:64542865-64543037	GM12878	blood:	n/a	n/a
49	FOS	chrX:64579195-64579208	MCF10A-Er-Src	breast:	n/a	n/a
50	FOXA2	chrX:64573455-64573978	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H12B-1	chrX:64586534-64586642	XLOC_008001
2	lnc-LAS1L-4	chrX:64550687-64551113	NONHSAT137333
3	lnc-LAS1L-4	chrX:64547868-64548401	NONHSAT137333

No data

Variant related genes	Relation type
ENSG00000237963	TF binding region
MORF4L1P5	TF binding region
USP25	miRNA target sites

Extended variants
information (count: 133 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149729652	chrX:64505986-64505987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568428341	chrX:64506029-64506030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372995363	chrX:64506036-64506037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551455968	chrX:64506278-64506279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34575377	chrX:64506353-64506354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570045463	chrX:64506374-64506375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12689879	chrX:64506395-64506396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191675245	chrX:64506451-64506452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183445798	chrX:64506504-64506505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6624776	chrX:64506591-64506592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369628526	chrX:64506612-64506613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199604692	chrX:64506661-64506662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186052655	chrX:64506723-64506724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148482674	chrX:64506736-64506737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190070994	chrX:64506898-64506899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142258674	chrX:64506932-64506933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146792334	chrX:64507018-64507019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182632112	chrX:64507155-64507156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5964952	chrX:64507165-64507166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34396222	chrX:64507349-64507350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376474542	chrX:64507375-64507376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5964430	chrX:64507382-64507383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146592301	chrX:64507595-64507596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186560557	chrX:64507623-64507624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374698829	chrX:64519171-64519172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367656154	chrX:64519267-64519268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185761871	chrX:64519275-64519276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189863451	chrX:64519391-64519392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56300321	chrX:64519416-64519417	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139709865	chrX:64519482-64519483	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs193166541	chrX:64519537-64519538	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs149792173	chrX:64519576-64519577	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34482900	chrX:64519593-64519594	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184569605	chrX:64519624-64519625	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145785272	chrX:64519625-64519626	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188674476	chrX:64519658-64519659	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148978378	chrX:64519664-64519665	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536892059	chrX:64519700-64519701	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368727813	chrX:64519770-64519771	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371468852	chrX:64520181-64520182	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145565445	chrX:64520189-64520190	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181411815	chrX:64520277-64520278	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185257623	chrX:64520288-64520289	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188395276	chrX:64520444-64520445	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181988997	chrX:64520481-64520482	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147733161	chrX:64520500-64520501	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539923267	chrX:64520542-64520543	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543539886	chrX:64520570-64520571	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187426927	chrX:64520827-64520828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191393513	chrX:64520904-64520905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
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
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
Wilms tumour	17204608	CNVD
craniofacial dysmorphism	21918468	CNVD
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
turner syndrome	20570968	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64503200-64507800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chrX:64519000-64519400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:64519400-64519600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chrX:64519400-64519800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chrX:64519400-64520800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:64519600-64519800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:64519600-64520000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chrX:64519600-64520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:64519600-64520600	Enhancers	Dnd41	blood
10	chrX:64519800-64520000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chrX:64519800-64520200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chrX:64519800-64520200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chrX:64519800-64520400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chrX:64519800-64520400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chrX:64519800-64520400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chrX:64520000-64520400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chrX:64520000-64520600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chrX:64520000-64520600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chrX:64520000-64520600	Enhancers	HepG2	liver
20	chrX:64520200-64520600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chrX:64520200-64520600	Enhancers	Placenta	Placenta
22	chrX:64520200-64521200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chrX:64520600-64520800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chrX:64520800-64521000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chrX:64521400-64521600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chrX:64525200-64525600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chrX:64529000-64531400	Weak transcription	Fetal Heart	heart
28	chrX:64586600-64586800	Enhancers	Fetal Kidney	kidney
29	chrX:64586800-64595600	Weak transcription	Fetal Kidney	kidney

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