Variant report

Variant	rs372899948
Chromosome Location	chrX:105279346-105279347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:105279074-105279436	GM12878	blood:	n/a	n/a
2	ZNF143	chrX:105279127-105279402	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chrX:105279108-105279379	MCF-7	breast:	n/a	n/a
4	ZNF143	chrX:105279197-105279403	GM12878	blood:	n/a	n/a
5	CTCF	chrX:105279200-105279350	RPTEC	kidney:	n/a	n/a
6	CTCF	chrX:105279200-105279350	HRPEpiC	eye:	n/a	n/a
7	CTCF	chrX:105279146-105279361	HepG2	liver:	n/a	n/a
8	CTCF	chrX:105279200-105279350	GM12868	blood:	n/a	n/a
9	SMC3	chrX:105279041-105279467	HepG2	liver:	n/a	n/a
10	CTCF	chrX:105279147-105279366	LNCaP	prostate:	n/a	n/a
11	CTCF	chrX:105279037-105279428	SK-N-SH	brain:	n/a	n/a
12	RAD21	chrX:105279113-105279467	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chrX:105279200-105279350	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chrX:105279200-105279350	HepG2	liver:	n/a	n/a
15	CTCF	chrX:105279240-105279390	GM12869	blood:	n/a	n/a
16	CTCF	chrX:105279060-105279539	MCF-7	breast:	n/a	n/a
17	RAD21	chrX:105279114-105279424	GM12878	blood:	n/a	n/a
18	CTCF	chrX:105279152-105279393	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chrX:105279105-105279380	HepG2	liver:	n/a	n/a
20	CTCF	chrX:105279133-105279377	LNCaP	prostate:	n/a	n/a
21	RAD21	chrX:105279128-105279360	GM12878	blood:	n/a	n/a
22	CTCF	chrX:105279166-105279348	HepG2	liver:	n/a	n/a
23	CTCF	chrX:105279200-105279350	WERI-Rb-1	eye:	n/a	n/a
24	RAD21	chrX:105279145-105279387	IMR90	lung:	n/a	n/a
25	CTCF	chrX:105279200-105279350	HPAF	blood vessel:	n/a	n/a
26	RAD21	chrX:105279029-105279453	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chrX:105279280-105279430	A549	lung:	n/a	n/a
28	RAD21	chrX:105279057-105279595	MCF-7	breast:	n/a	n/a
29	CTCF	chrX:105279200-105279350	MCF-7	breast:	n/a	n/a
30	RAD21	chrX:105279052-105279616	SK-N-SH	brain:	n/a	n/a
31	CTCF	chrX:105279050-105279465	MCF-7	breast:	n/a	n/a
32	CTCF	chrX:105279095-105279418	K562	blood:	n/a	n/a
33	CTCF	chrX:105279220-105279370	GM12866	blood:	n/a	n/a
34	CTCF	chrX:105279200-105279350	GM12875	blood:	n/a	n/a
35	RAD21	chrX:105279124-105279412	Hela-S3	cervix:	n/a	n/a
36	CTCF	chrX:105279275-105279364	GM20000	blood:	n/a	n/a
37	CTCF	chrX:105279220-105279370	MCF-7	breast:	n/a	n/a
38	CTCF	chrX:105279200-105279350	GM12864	blood:	n/a	n/a
39	RAD21	chrX:105279007-105279512	HCT-116	colon:	n/a	n/a
40	RAD21	chrX:105279118-105279485	A549	lung:	n/a	n/a
41	CTCF	chrX:105279200-105279350	A549	lung:	n/a	n/a
42	RAD21	chrX:105279100-105279454	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chrX:105279103-105279404	MCF-7	breast:	n/a	n/a
44	RAD21	chrX:105279158-105279362	GM12878	blood:	n/a	n/a
45	CTCF	chrX:105279220-105279370	GM06990	blood:	n/a	n/a
46	CTCF	chrX:105279200-105279350	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chrX:105279200-105279350	NHEK	skin:	n/a	n/a
48	RAD21	chrX:105279090-105279430	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chrX:105278937-105279541	MCF-7	breast:	n/a	n/a
50	CTCF	chrX:105279200-105279350	GM12873	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:105277280..105279947-chrX:105280016..105282819,2	K562	blood:

No data

Variant related genes	Relation type
SERPINA7	TF binding region
ENSG00000123561	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870233	chrX:105119831-105678186	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv531152	chrX:105135228-105669012	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv995118	chrX:105159687-105621288	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv521259	chrX:105179132-105677434	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv528467	chrX:105278361-105354377	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:105279000-105280600	Transcr. at gene 5' and 3'	HepG2	liver
2	chrX:105279200-105279400	Transcr. at gene 5' and 3'	Liver	Liver

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