Variant report

Variant	rs2459816
Chromosome Location	chr5:17400211-17400212
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	RCOR1	chr5:17400162-17400229	K562	blood:	n/a	n/a
2	MYC	chr5:17400026-17400346	NB4	blood:	n/a	n/a
3	MAZ	chr5:17400101-17400324	K562	blood:	n/a	n/a
4	TAL1	chr5:17400034-17400381	K562	blood:	n/a	n/a
5	TEAD4	chr5:17399690-17400399	K562	blood:	n/a	n/a
6	MAFK	chr5:17400104-17400269	K562	blood:	n/a	n/a
7	UBTF	chr5:17400126-17400224	K562	blood:	n/a	n/a
8	ZMIZ1	chr5:17400106-17400298	K562	blood:	n/a	n/a
9	RCOR1	chr5:17399600-17400354	K562	blood:	n/a	n/a
10	ATF1	chr5:17400131-17400411	K562	blood:	n/a	n/a
11	SPI1	chr5:17398812-17400352	HL-60	blood:	n/a	chr5:17399218-17399227 chr5:17400267-17400280
12	EP300	chr5:17399627-17400393	K562	blood:	n/a	chr5:17399945-17399959
13	BHLHE40	chr5:17400134-17400222	K562	blood:	n/a	n/a
14	PML	chr5:17400012-17400336	K562	blood:	n/a	n/a
15	MAX	chr5:17400125-17400371	NB4	blood:	n/a	n/a
16	HCFC1	chr5:17400090-17400237	K562	blood:	n/a	n/a
17	MYC	chr5:17400110-17400320	K562	blood:	n/a	n/a
18	CCNT2	chr5:17400128-17400357	K562	blood:	n/a	n/a
19	JUND	chr5:17399837-17400397	K562	blood:	n/a	chr5:17400173-17400182
20	TBL1XR1	chr5:17400121-17400254	K562	blood:	n/a	n/a
21	TEAD4	chr5:17400061-17400327	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17365516..17367373-chr5:17399549..17401386,2	K562	blood:
2	chr5:17399274..17401360-chr5:17404322..17406946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248455	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs159605	0.82[EUR][1000 genomes]
rs159606	0.82[EUR][1000 genomes]
rs2454947	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2459814	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2459825	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2859621	0.82[EUR][1000 genomes]
rs298540	0.82[EUR][1000 genomes]
rs299387	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72740529	0.80[ASN][1000 genomes]
rs904861	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv1017469	chr5:17373383-17416643	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
16	nsv980966	chr5:17379819-17496300	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1023600	chr5:17382604-17418330	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1031214	chr5:17382604-17427825	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv881474	chr5:17390145-17509888	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv968881	chr5:17391605-17484624	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv2757108	chr5:17398090-17804346	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
22	nsv1030762	chr5:17398399-17690362	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17396600-17400800	Weak transcription	Fetal Kidney	kidney
2	chr5:17397200-17401600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:17397400-17400800	Weak transcription	Ovary	ovary
4	chr5:17397600-17402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:17397800-17401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:17397800-17403000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:17398000-17400800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:17398000-17400800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:17398200-17400600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:17398200-17400800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:17398400-17400600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:17398600-17403000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:17398800-17401000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:17398800-17401000	Enhancers	Primary B cells from cord blood	blood
15	chr5:17399000-17400800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:17399000-17401000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:17399000-17401400	Weak transcription	Hela-S3	cervix
18	chr5:17399000-17402200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:17399000-17402400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:17399200-17400800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:17399200-17400800	Weak transcription	A549	lung
22	chr5:17399200-17402400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:17399400-17401400	Weak transcription	HSMMtube	muscle
24	chr5:17399400-17405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:17399400-17406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:17399600-17400600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:17399600-17400800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:17399600-17401000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:17399600-17401400	Weak transcription	HSMM	muscle
30	chr5:17399600-17401400	Weak transcription	NH-A	brain
31	chr5:17399800-17401400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:17399800-17401800	Enhancers	K562	blood
33	chr5:17399800-17404600	Enhancers	Fetal Brain Male	brain
34	chr5:17400200-17400600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:17400200-17400600	Weak transcription	Placenta	Placenta
36	chr5:17400200-17400800	Enhancers	H1 Cell Line	embryonic stem cell

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