Variant report

Variant	rs17074946
Chromosome Location	chr3:42987634-42987635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42977453..42979146-chr3:42986995..42988521,2	K562	blood:
2	chr3:42977646..42980375-chr3:42985694..42988521,2	K562	blood:

Variant related genes	Relation type
ENSG00000240747	Chromatin interaction
ENSG00000206552	Chromatin interaction
ENSG00000273291	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11129989	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12490902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12495968	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs17074953	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62248964	0.81[EUR][1000 genomes]
rs62248965	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6768791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865842	0.80[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42978400-42989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:42978400-42990600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:42978400-42994400	Weak transcription	Fetal Stomach	stomach
4	chr3:42978400-42995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:42978400-43003000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:42978400-43015400	Weak transcription	Pancreas	Pancrea
7	chr3:42978600-42987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:42978600-42989000	Weak transcription	Fetal Kidney	kidney
9	chr3:42978600-42991000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:42978600-43003000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:42978600-43020400	Weak transcription	Ovary	ovary
12	chr3:42979000-42991600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:42980400-42988400	Strong transcription	Placenta	Placenta
14	chr3:42981400-42995800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:42983600-43003400	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:42983800-42987800	Weak transcription	Fetal Intestine Large	intestine
17	chr3:42983800-42989600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:42985000-42988800	Weak transcription	Psoas Muscle	Psoas
19	chr3:42985000-42990600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:42985000-43003000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:42985200-42997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:42985200-43003000	Weak transcription	Brain Angular Gyrus	brain

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