Variant report

Variant	rs2615300
Chromosome Location	chr15:44491604-44491605
allele	C/T
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	JUND	chr15:44491540-44491913	HepG2	liver:	n/a	n/a
2	FOSL2	chr15:44491464-44492008	HepG2	liver:	n/a	chr15:44491710-44491721
3	JUN	chr15:44491559-44491970	Hela-S3	cervix:	n/a	n/a
4	JUND	chr15:44491524-44492045	Hela-S3	cervix:	n/a	n/a
5	FOS	chr15:44491585-44491963	HUVEC	blood vessel:	n/a	n/a
6	JUND	chr15:44491556-44491982	HepG2	liver:	n/a	n/a
7	FOXA1	chr15:44491521-44492042	HepG2	liver:	n/a	n/a
8	TEAD4	chr15:44491519-44491980	HepG2	liver:	n/a	n/a
9	MYBL2	chr15:44491450-44492012	HepG2	liver:	n/a	n/a
10	JUND	chr15:44491437-44491991	HCT-116	colon:	n/a	n/a
11	FOXA1	chr15:44491488-44492062	HepG2	liver:	n/a	n/a
12	NR2F2	chr15:44491437-44492126	HepG2	liver:	n/a	chr15:44491777-44491792
13	FOSL1	chr15:44491415-44492092	HCT-116	colon:	n/a	n/a
14	NR2F2	chr15:44491527-44492091	HepG2	liver:	n/a	chr15:44491777-44491792
15	NR2F2	chr15:44491519-44492058	MCF-7	breast:	n/a	chr15:44491777-44491792
16	EP300	chr15:44491581-44491971	HepG2	liver:	n/a	n/a
17	FOSL2	chr15:44491458-44491989	HepG2	liver:	n/a	chr15:44491710-44491721
18	RXRA	chr15:44491569-44491970	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44486877..44488833-chr15:44490905..44493302,2	MCF-7	breast:

Variant related genes	Relation type
FRMD5	TF binding region
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12900880	1.00[CEU][hapmap]
rs12908345	0.96[EUR][1000 genomes]
rs12910886	0.82[ASW][hapmap];0.86[YRI][hapmap]
rs1365457	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2256928	0.88[ASW][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap]
rs2447333	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2447334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2463448	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2464692	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2555376	0.83[ASW][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap]
rs2615254	0.96[EUR][1000 genomes]
rs2615277	0.93[AFR][1000 genomes]
rs2615297	0.85[GIH][hapmap]
rs2615299	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2615303	0.95[AFR][1000 genomes]
rs2696072	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696073	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696074	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2696075	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696076	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2696078	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2696094	1.00[CEU][hapmap]
rs2696098	0.81[GIH][hapmap]
rs2696099	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2706461	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2706477	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706478	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706484	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706495	0.83[ASW][hapmap];0.93[GIH][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap]
rs2733209	0.83[YRI][hapmap]
rs2733210	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2733221	0.84[GIH][hapmap]
rs2733234	0.95[AFR][1000 genomes]
rs28673086	0.96[EUR][1000 genomes]
rs7174819	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44488200-44492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:44488200-44492600	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:44491000-44492600	Enhancers	HepG2	liver
4	chr15:44491200-44492200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:44491200-44492200	Enhancers	Stomach Mucosa	stomach
6	chr15:44491200-44492200	Enhancers	NHEK	skin
7	chr15:44491200-44493000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:44491400-44491800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:44491400-44492000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:44491400-44492000	Enhancers	HMEC	breast
11	chr15:44491400-44492200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr15:44491400-44492200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:44491400-44492200	Enhancers	Hela-S3	cervix
14	chr15:44491400-44492200	Enhancers	HUVEC	blood vessel
15	chr15:44491600-44491800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:44491600-44492000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:44491600-44492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr15:44491600-44492000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:44491600-44492000	Enhancers	Pancreas	Pancrea
20	chr15:44491600-44492000	Enhancers	Spleen	Spleen
21	chr15:44491600-44492200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr15:44491600-44492200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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