Variant report

Variant	rs13004848
Chromosome Location	chr2:127887560-127887561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127886598..127888398-chr2:127890638..127893257,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12989701	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994284	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12994718	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13009551	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029812	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1504135	1.00[CHB][hapmap]
rs28434131	0.93[EUR][1000 genomes]
rs34608578	0.81[EUR][1000 genomes]
rs34745987	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34854727	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35832505	0.94[EUR][1000 genomes]
rs35860453	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36085158	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4663096	0.89[EUR][1000 genomes]
rs4663097	0.94[CEU][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs6710467	0.95[EUR][1000 genomes]
rs6720234	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71414738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557280	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7583814	0.92[EUR][1000 genomes]
rs873270	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13004848	BIN1	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127870600-127898400	Weak transcription	Right Atrium	heart
2	chr2:127880200-127894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:127886400-127887600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:127886400-127888600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:127886400-127890600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:127886400-127890800	Weak transcription	Placenta	Placenta
7	chr2:127886400-127891800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:127886400-127892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:127886400-127893000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:127886400-127893000	Weak transcription	Spleen	Spleen
11	chr2:127886600-127891200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:127886600-127892200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:127886600-127893000	Weak transcription	Brain Angular Gyrus	brain
14	chr2:127886600-127893000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:127886600-127893600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:127886800-127892200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:127886800-127892200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:127887200-127890400	Weak transcription	Pancreas	Pancrea

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