Variant report

Variant	rs2145812
Chromosome Location	chr1:67561265-67561266
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:67558831..67564229-chr1:67565617..67569175,7	K562	blood:
2	chr1:67551656..67556031-chr1:67559263..67563184,6	K562	blood:
3	chr1:67561173..67563270-chr1:67569179..67571534,2	K562	blood:
4	chr1:67561006..67563194-chr1:67569699..67571799,2	K562	blood:
5	chr1:67552378..67556698-chr1:67559401..67563184,5	K562	blood:
6	chr1:67560393..67564229-chr1:67565692..67568839,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf141-1	chr1:67558078-67562004	NONHSAT003771

No data

Variant related genes	Relation type
ENSG00000252433	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10789220	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789221	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10789223	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10889652	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144655	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2144658	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2224501	0.94[ASN][1000 genomes]
rs2224502	0.97[ASN][1000 genomes]
rs2755267	0.97[ASN][1000 genomes]
rs2755268	0.97[ASN][1000 genomes]
rs2815385	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2815386	0.97[ASN][1000 genomes]
rs4655515	0.81[EUR][1000 genomes]
rs4655672	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655674	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6670381	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672126	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691094	0.80[AMR][1000 genomes]
rs6703469	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7519768	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531772	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552205	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7555677	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982131	0.97[ASN][1000 genomes]
rs983110	0.97[ASN][1000 genomes]
rs983111	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2145812	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL
rs2145812	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67555000-67563000	Weak transcription	K562	blood
2	chr1:67559800-67561400	Enhancers	HMEC	breast
3	chr1:67560000-67561600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:67560200-67561400	Enhancers	NHEK	skin
5	chr1:67560200-67562000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:67561200-67561400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:67561200-67561400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:67561200-67561400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:67561200-67561600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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