Variant report

Variant	rs4613969
Chromosome Location	chr8:105687482-105687483
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:105600395..105604181-chr8:105683013..105688062,5	K562	blood:
2	chr8:105601254..105603297-chr8:105686014..105688062,2	K562	blood:
3	chr8:105683981..105686982-chr8:105687045..105690798,3	K562	blood:
4	chr8:105678510..105680319-chr8:105686103..105688266,2	K562	blood:
5	chr8:105683511..105686847-chr8:105687045..105688901,3	K562	blood:
6	chr8:105678819..105681604-chr8:105686103..105688142,2	K562	blood:
7	chr8:105686405..105688523-chr8:105690320..105691996,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction
ENSG00000253350	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11775279	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987087	0.93[EUR][1000 genomes]
rs11990797	0.93[EUR][1000 genomes]
rs13250799	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs13251577	0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs13253231	1.00[ASN][1000 genomes]
rs13263407	1.00[ASN][1000 genomes]
rs13263691	1.00[ASN][1000 genomes]
rs13263724	1.00[ASN][1000 genomes]
rs13281201	1.00[ASN][1000 genomes]
rs1370798	1.00[ASN][1000 genomes]
rs1438341	1.00[ASN][1000 genomes]
rs17263776	1.00[ASN][1000 genomes]
rs2028243	1.00[ASN][1000 genomes]
rs2341866	1.00[ASN][1000 genomes]
rs34080218	1.00[ASN][1000 genomes]
rs34989786	1.00[ASN][1000 genomes]
rs35641998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699791	1.00[ASN][1000 genomes]
rs35931188	1.00[ASN][1000 genomes]
rs36069650	1.00[ASN][1000 genomes]
rs36072167	0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs4545061	1.00[ASN][1000 genomes]
rs4734110	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734805	1.00[ASN][1000 genomes]
rs4734806	1.00[ASN][1000 genomes]
rs4734814	1.00[ASN][1000 genomes]
rs4734816	1.00[ASN][1000 genomes]
rs57857375	1.00[ASN][1000 genomes]
rs72674139	1.00[ASN][1000 genomes]
rs7465486	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4613969	LRP12	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105679200-105690600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:105681800-105689400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105682800-105689800	Weak transcription	NHDF-Ad	bronchial
4	chr8:105685000-105688400	Weak transcription	K562	blood
5	chr8:105686200-105689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:105686200-105689800	Weak transcription	Osteobl	bone
7	chr8:105686400-105689800	Weak transcription	Muscle Satellite Cultured Cells	--

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