Variant report

Variant	rs12518331
Chromosome Location	chr5:126093846-126093847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:126093794-126094950	NB4	blood:	n/a	n/a
2	BCL11A	chr5:126093768-126093991	GM12878	blood:	n/a	n/a
3	ZNF384	chr5:126093426-126095124	GM12878	blood:	n/a	n/a
4	SPI1	chr5:126093831-126094622	HL-60	blood:	n/a	chr5:126094148-126094161 chr5:126094151-126094158
5	TBP	chr5:126093733-126094627	GM12878	blood:	n/a	n/a
6	EBF1	chr5:126093788-126094569	GM12878	blood:	n/a	n/a
7	RUNX3	chr5:126093660-126094684	GM12878	blood:	n/a	n/a
8	TEAD4	chr5:126093646-126094561	K562	blood:	n/a	n/a
9	NFIC	chr5:126093657-126094145	GM12878	blood:	n/a	n/a
10	ARID3A	chr5:126093824-126094235	K562	blood:	n/a	n/a
11	CEBPB	chr5:126093773-126094506	K562	blood:	n/a	n/a
12	CHD2	chr5:126093780-126094561	GM12878	blood:	n/a	n/a
13	MYC	chr5:126093802-126094642	NB4	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126076590..126078230-chr5:126093014..126095500,2	K562	blood:
2	chr5:126091168..126095262-chr5:126111673..126114591,6	K562	blood:
3	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
4	chr5:126079615..126082602-chr5:126091477..126095307,3	K562	blood:
5	chr5:126091797..126096824-chr5:126110600..126114072,4	MCF-7	breast:
6	chr5:126086478..126088034-chr5:126091478..126094042,2	MCF-7	breast:
7	chr5:126092644..126095197-chr5:126095579..126097728,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-752P	TF binding region
ENSG00000251072	Chromatin interaction
ENSG00000113368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12514703	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12515255	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12518228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521266	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17165351	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17165359	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3749830	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3812062	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55699774	0.84[ASN][1000 genomes]
rs56121757	0.92[ASN][1000 genomes]
rs56366269	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59395878	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60107783	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60147760	0.92[ASN][1000 genomes]
rs60818126	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61074663	0.84[ASN][1000 genomes]
rs72780203	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72780207	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72780210	0.81[AFR][1000 genomes]
rs72798231	0.84[AMR][1000 genomes]
rs72798238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798243	0.92[ASN][1000 genomes]
rs72798245	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72798246	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798247	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798249	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798253	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72798255	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7447810	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv823208	chr5:126092945-126094740	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126078600-126094200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126084800-126094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:126084800-126094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:126086600-126094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:126087000-126097800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:126087400-126094000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:126089400-126094000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:126091600-126094200	Weak transcription	Fetal Thymus	thymus
9	chr5:126092800-126094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:126093000-126094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:126093200-126094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:126093400-126094600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:126093600-126095200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:126093600-126095800	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:126093800-126094000	Enhancers	K562	blood
16	chr5:126093800-126094200	Enhancers	Primary B cells from cord blood	blood
17	chr5:126093800-126094200	Enhancers	Dnd41	blood
18	chr5:126093800-126094400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:126093800-126094400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:126093800-126094600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr5:126093800-126094600	Flanking Active TSS	GM12878-XiMat	blood
22	chr5:126093800-126095200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:126093800-126095200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr5:126093800-126095400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:126093800-126095400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:126093800-126095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links