Variant report

Variant	rs567944242
Chromosome Location	chr15:53002024-53002025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:53001711-53002129	T-47D	breast:	n/a	chr15:53001859-53001880 chr15:53001866-53001873 chr15:53001865-53001875 chr15:53001866-53001873 chr15:53001862-53001878 chr15:53001866-53001875 chr15:53001866-53001873
2	POLR2A	chr15:53001813-53002392	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:53001846-53002220	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA2	chr15:53001846-53002199	HepG2	liver:	n/a	n/a
5	TBP	chr15:53001803-53002217	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr15:53001700-53002240	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:53001658-53002341	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr15:53001810-53002227	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:53001769-53002179	HepG2	liver:	n/a	n/a
10	KAP1	chr15:53001749-53002383	U2OS	brain:	n/a	n/a
11	FOXA1	chr15:53001795-53002222	T-47D	breast:	n/a	n/a
12	RCOR1	chr15:53001829-53002318	HepG2	liver:	n/a	n/a
13	TBP	chr15:53001841-53002143	HepG2	liver:	n/a	n/a
14	MXI1	chr15:53001482-53002166	HepG2	liver:	n/a	n/a
15	MAZ	chr15:53001863-53002344	HepG2	liver:	n/a	n/a
16	KAP1	chr15:53001093-53002790	HEK293	kidney:	n/a	n/a
17	POLR2A	chr15:53000972-53002735	Raji	blood:	n/a	n/a
18	FOXA1	chr15:53001725-53002227	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:53001840-53002054	HepG2	liver:	n/a	n/a
20	FOXA1	chr15:53001754-53002278	HepG2	liver:	n/a	n/a
21	FOXA1	chr15:53001842-53002324	HepG2	liver:	n/a	n/a
22	FOXA1	chr15:53001811-53002212	T-47D	breast:	n/a	n/a
23	POLR2A	chr15:53001761-53002276	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52967401..52973659-chr15:53000765..53004676,11	MCF-7	breast:
2	chr15:52968259..52973250-chr15:52997483..53005703,18	MCF-7	breast:

Variant related genes	Relation type
FAM214A	TF binding region
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1049055	chr15:52990467-53030603	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1035212	chr15:52995637-53030603	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1049144	chr15:52995637-53039179	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1049619	chr15:52995637-53041887	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv515534	chr15:52998262-53025692	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv569425	chr15:53001538-53038488	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52998800-53002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:53001000-53002200	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr15:53001200-53002400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:53001200-53002600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:53001200-53002800	Flanking Active TSS	HepG2	liver
6	chr15:53001400-53002200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:53001400-53002200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr15:53001400-53002200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:53001600-53002200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr15:53001600-53002200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:53001600-53002200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:53001600-53002200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:53001600-53002400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:53001600-53002400	Flanking Active TSS	Liver	Liver
15	chr15:53001600-53002800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:53001600-53003200	Enhancers	NHEK	skin
17	chr15:53001800-53002200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:53001800-53002200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:53001800-53002200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr15:53001800-53002200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:53001800-53002200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:53001800-53002200	Active TSS	Duodenum Mucosa	Duodenum
23	chr15:53001800-53002200	Enhancers	Hela-S3	cervix
24	chr15:53001800-53002400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:53001800-53002400	Enhancers	Gastric	stomach
26	chr15:53001800-53002600	Enhancers	Adipose Nuclei	Adipose
27	chr15:53001800-53002600	Flanking Active TSS	GM12878-XiMat	blood
28	chr15:53001800-53002800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:53001800-53002800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:53001800-53002800	Enhancers	Placenta	Placenta
31	chr15:53001800-53002800	Enhancers	Pancreas	Pancrea
32	chr15:53002000-53002200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:53002000-53002600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:53002000-53002600	Enhancers	Fetal Intestine Small	intestine
35	chr15:53002000-53002800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:53002000-53002800	Enhancers	Fetal Intestine Large	intestine
37	chr15:53002000-53003200	Enhancers	Primary B cells from cord blood	blood

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