Variant report

Variant	rs36072167
Chromosome Location	chr8:105713240-105713241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:105712727-105713504	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:105712769-105713565	H1-neurons	neurons:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105712081..105714372-chr8:105714819..105716781,2	K562	blood:
2	chr8:105711861..105714440-chr8:105717255..105718999,2	K562	blood:
3	chr8:105711065..105713637-chr8:105720614..105722617,2	K562	blood:
4	chr8:105698626..105703795-chr8:105706675..105713568,6	K562	blood:
5	chr8:105705457..105709935-chr8:105711450..105714601,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11775279	1.00[ASN][1000 genomes]
rs11780991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13250799	0.89[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251577	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253231	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263407	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263691	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263724	0.94[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281201	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370798	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438341	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263776	0.94[CEU][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028243	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341866	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34027648	0.83[EUR][1000 genomes]
rs34080218	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989786	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35641998	1.00[ASN][1000 genomes]
rs35699791	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931188	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069650	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545061	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613969	0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs4734110	1.00[ASN][1000 genomes]
rs4734805	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734806	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734814	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734816	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857375	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674139	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465486	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36072167	LRP12	cis	cerebellum	SCAN
rs36072167	TTC35	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105703200-105713400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:105705000-105715800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:105711400-105713800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:105711600-105714000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:105711800-105714000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:105712200-105713400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:105713000-105713400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:105713000-105713400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:105713000-105713400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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