Variant report

Variant	rs12040492
Chromosome Location	chr1:213081269-213081270
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213081058..213082812-chr1:213090244..213092808,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10779596	0.98[ASN][1000 genomes]
rs10864008	0.89[EUR][1000 genomes]
rs10864024	0.93[ASN][1000 genomes]
rs10864030	0.98[ASN][1000 genomes]
rs11120063	0.95[ASN][1000 genomes]
rs12038555	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044080	0.89[EUR][1000 genomes]
rs12074192	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12075289	0.95[ASN][1000 genomes]
rs12087098	0.91[ASN][1000 genomes]
rs12135746	0.98[ASN][1000 genomes]
rs12405742	0.86[ASN][1000 genomes]
rs12408694	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12760321	0.95[ASN][1000 genomes]
rs1284851	0.95[ASN][1000 genomes]
rs1284853	0.95[ASN][1000 genomes]
rs1390501	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs15903	0.95[ASN][1000 genomes]
rs2359323	0.98[ASN][1000 genomes]
rs2359326	0.93[ASN][1000 genomes]
rs2644549	1.00[ASN][1000 genomes]
rs2792562	1.00[ASN][1000 genomes]
rs4951650	0.98[ASN][1000 genomes]
rs4951651	0.98[ASN][1000 genomes]
rs58128459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58172415	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59300965	0.93[EUR][1000 genomes]
rs6660933	0.81[ASN][1000 genomes]
rs6663568	0.81[ASN][1000 genomes]
rs6663574	0.95[ASN][1000 genomes]
rs6671740	0.88[ASN][1000 genomes]
rs6674782	0.81[ASN][1000 genomes]
rs6677411	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6679775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6682947	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6683314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6697099	0.95[ASN][1000 genomes]
rs6697126	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6701782	0.98[ASN][1000 genomes]
rs7528113	0.88[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7530057	0.91[ASN][1000 genomes]
rs7544229	0.86[EUR][1000 genomes]
rs7553536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429894	0.95[ASN][1000 genomes]
rs9429895	0.95[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12040492	FLVCR1-AS1	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213079000-213082600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:213079200-213081400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:213079400-213081400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
7	chr1:213079800-213082400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:213079800-213082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:213080400-213081800	Genic enhancers	H1 Cell Line	embryonic stem cell
10	chr1:213080600-213081400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:213080600-213081600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:213080600-213082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:213080600-213083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:213080800-213081600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
15	chr1:213081200-213081600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:213081200-213081600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

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