Variant report

Variant	rs12408256
Chromosome Location	chr1:57604269-57604270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:57604186-57604403	H1-hESC	embryonic stem cell:	n/a	chr1:57604285-57604298
2	SPI1	chr1:57603404-57604278	GM12878	blood:	n/a	chr1:57604134-57604147 chr1:57603800-57603809 chr1:57604136-57604143 chr1:57603804-57603813

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11206975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11206981	1.00[CEU][hapmap]
rs12032549	1.00[CEU][hapmap]
rs12090414	1.00[JPT][hapmap]
rs12406184	0.87[EUR][1000 genomes]
rs12562392	1.00[CEU][hapmap]
rs12562394	1.00[CEU][hapmap]
rs12562609	1.00[CEU][hapmap]
rs12562930	1.00[CEU][hapmap]
rs12563280	1.00[CEU][hapmap]
rs12564278	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12564961	1.00[CEU][hapmap]
rs12566131	1.00[CEU][hapmap]
rs12566320	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12567335	1.00[CEU][hapmap]
rs12567531	1.00[CEU][hapmap]
rs12567904	1.00[CEU][hapmap]
rs12568148	1.00[CEU][hapmap]
rs12568862	1.00[CEU][hapmap]
rs17115023	1.00[CEU][hapmap]
rs17115030	1.00[CEU][hapmap]
rs17115105	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17115108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17115146	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17115155	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17115222	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs17115397	1.00[CEU][hapmap]
rs17115580	1.00[CEU][hapmap]
rs17115587	1.00[CEU][hapmap]
rs17420013	1.00[CEU][hapmap]
rs17420216	1.00[CEU][hapmap]
rs17421219	1.00[CEU][hapmap]
rs17421839	1.00[CEU][hapmap]
rs17422039	1.00[CEU][hapmap]
rs17455073	1.00[CEU][hapmap]
rs17455469	1.00[CEU][hapmap]
rs17455616	1.00[CEU][hapmap]
rs17455728	1.00[CEU][hapmap]
rs17455840	1.00[CEU][hapmap]
rs502701	1.00[JPT][hapmap]
rs519401	1.00[JPT][hapmap]
rs553508	1.00[JPT][hapmap]
rs556204	1.00[JPT][hapmap]
rs561258	1.00[JPT][hapmap]
rs61765323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61765324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61765326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61765327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61765328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697173	1.00[CEU][hapmap]
rs728719	1.00[CEU][hapmap]

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57589400-57608600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57602200-57609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57603200-57605200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:57604000-57604600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:57604000-57604600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:57604000-57604800	Enhancers	Brain Substantia Nigra	brain
8	chr1:57604000-57605000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:57604200-57605000	Enhancers	Liver	Liver
10	chr1:57604200-57605200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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