Variant report

Variant	rs3846054
Chromosome Location	chr3:134141848-134141849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:56707823..56710437-chr3:134140925..134142745,2	MCF-7	breast:
2	chr3:134137781..134139924-chr3:134140721..134142548,2	MCF-7	breast:
3	chr3:134139549..134143630-chr3:134144649..134147393,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3846053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767595	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs7611834	0.85[CEU][hapmap]
rs7620040	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7628967	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9790169	0.82[AMR][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1007607	chr3:134131521-134156814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3846054	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134126400-134146000	Weak transcription	Pancreas	Pancrea
2	chr3:134138800-134142000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:134139000-134142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:134139000-134142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:134139000-134142200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:134141200-134143200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:134141200-134146000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:134141400-134142400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:134141600-134142400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:134141600-134142400	Enhancers	Brain Anterior Caudate	brain
11	chr3:134141600-134142600	Enhancers	Brain Hippocampus Middle	brain
12	chr3:134141600-134143000	Enhancers	Fetal Muscle Leg	muscle
13	chr3:134141600-134143200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:134141600-134145800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:134141800-134142000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:134141800-134142000	Enhancers	Spleen	Spleen
17	chr3:134141800-134142200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:134141800-134142200	Enhancers	NHLF	lung
19	chr3:134141800-134142400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:134141800-134142400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:134141800-134142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:134141800-134142400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:134141800-134142400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:134141800-134142600	Enhancers	Brain Angular Gyrus	brain
25	chr3:134141800-134142600	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:134141800-134142600	Enhancers	HSMM	muscle
27	chr3:134141800-134142600	Enhancers	NHDF-Ad	bronchial
28	chr3:134141800-134142800	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:134141800-134144000	Enhancers	HepG2	liver

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