Variant report

Variant	rs11148205
Chromosome Location	chr13:51644726-51644727
allele	C/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	CTCF	chr13:51643838-51644756	SK-N-SH	brain:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
2	CTCF	chr13:51643850-51644797	A549	lung:	n/a	chr13:51644355-51644376 chr13:51644274-51644282 chr13:51644361-51644377 chr13:51644360-51644378
3	SMC3	chr13:51643891-51644779	SK-N-SH	brain:	n/a	chr13:51644362-51644376
4	RAD21	chr13:51643056-51644954	SK-N-SH	brain:	n/a	chr13:51644274-51644286 chr13:51644274-51644283 chr13:51644358-51644377 chr13:51644362-51644376

No.	Distal block	Cell Line	Cell type
1	chr13:51643913..51644787-chr13:51694697..51695487,3	MCF-7	breast:
2	chr13:50550475..50551106-chr13:51643910..51644902,2	K562	blood:
3	chr13:51633296..51638107-chr13:51641307..51645101,5	MCF-7	breast:
4	chr13:51563313..51563988-chr13:51644056..51644911,3	MCF-7	breast:
5	chr13:51637970..51639747-chr13:51643912..51646146,3	MCF-7	breast:

Variant related genes	Relation type
GUCY1B2	TF binding region
ENSG00000123201	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11842080	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12859216	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs12865698	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12871332	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12877403	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs3790015	0.88[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3790017	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs3803199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3803200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4606607	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71428302	0.85[EUR][1000 genomes]
rs913467	0.88[CHB][hapmap]
rs927992	0.87[CHB][hapmap]
rs9526717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9563015	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9563017	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9563018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9563019	0.88[EUR][1000 genomes]
rs9563020	0.86[EUR][1000 genomes]
rs9568502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568504	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568505	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51633400-51657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51641800-51645600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:51643400-51645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:51643600-51645400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:51643800-51644800	Enhancers	Primary T cells from cord blood	blood
7	chr13:51643800-51646000	Enhancers	Primary hematopoietic stem cells	blood
8	chr13:51644000-51644800	Enhancers	Thymus	Thymus
9	chr13:51644000-51645800	Enhancers	Fetal Thymus	thymus
10	chr13:51644200-51644800	Enhancers	Primary B cells from cord blood	blood
11	chr13:51644400-51646400	Enhancers	Dnd41	blood
12	chr13:51644600-51644800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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