Variant report

Variant	rs10131300
Chromosome Location	chr14:72939495-72939496
allele	A/C
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	chr14:72939468-72939931	A549	lung:	n/a	chr14:72939744-72939753
2	CTCF	chr14:72939360-72939510	GM06990	blood:	n/a	n/a
3	RAD21	chr14:72939488-72939954	MCF-7	breast:	n/a	chr14:72939743-72939752
4	CTCF	chr14:72939380-72939530	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72937315..72940089-chr14:72941556..72943605,3	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1155166	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12433564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436059	0.90[ASN][1000 genomes]
rs1548686	0.96[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2159194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238189	0.81[CEU][hapmap];0.90[ASN][1000 genomes]
rs2332835	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs4903015	1.00[CHD][hapmap]
rs4903025	1.00[ASN][1000 genomes]
rs4903026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903028	0.96[CEU][hapmap]
rs6574077	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143154	0.81[CEU][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs7143912	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs7153455	1.00[CHD][hapmap]
rs7155105	0.80[CEU][hapmap];0.90[ASN][1000 genomes]
rs7155884	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs7158962	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[ASN][1000 genomes]
rs7159439	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012037	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018108	1.00[CHD][hapmap]
rs9989171	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Amyotrophic lateral sclerosis (sporadic)	24529757	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10131300	DCAF5	cis	parietal	SCAN
rs10131300	ZNF410	cis	parietal	SCAN
rs10131300	TMEM90A	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72930200-72943400	Weak transcription	Left Ventricle	heart
4	chr14:72930400-72943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:72933800-72942000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72934400-72943400	Weak transcription	Spleen	Spleen
7	chr14:72935600-72941600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:72936800-72940200	Weak transcription	Fetal Brain Female	brain
10	chr14:72937600-72943000	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:72938200-72939600	Enhancers	Dnd41	blood
12	chr14:72938400-72939600	Enhancers	Fetal Thymus	thymus
13	chr14:72938600-72943400	Weak transcription	Lung	lung
14	chr14:72939400-72943000	Weak transcription	Primary T cells from cord blood	blood

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