Variant report

Variant	rs2441978
Chromosome Location	chr11:57832912-57832913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11229181	1.00[EUR][1000 genomes]
rs11229182	1.00[EUR][1000 genomes]
rs12273150	1.00[EUR][1000 genomes]
rs12295135	1.00[EUR][1000 genomes]
rs1447176	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17152248	1.00[EUR][1000 genomes]
rs17152254	1.00[EUR][1000 genomes]
rs17152435	1.00[EUR][1000 genomes]
rs17152440	1.00[EUR][1000 genomes]
rs17152444	1.00[EUR][1000 genomes]
rs17152453	1.00[EUR][1000 genomes]
rs17152457	1.00[EUR][1000 genomes]
rs17152464	1.00[EUR][1000 genomes]
rs17152465	1.00[EUR][1000 genomes]
rs17152479	1.00[EUR][1000 genomes]
rs1868883	0.81[AFR][1000 genomes]
rs2084298	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2122804	1.00[EUR][1000 genomes]
rs2441954	1.00[CEU][hapmap]
rs2443451	1.00[EUR][1000 genomes]
rs2513723	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2513725	0.81[AFR][1000 genomes]
rs2514185	1.00[EUR][1000 genomes]
rs2514198	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2514203	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686459	1.00[CEU][hapmap]
rs896298	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs896299	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975831	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2441978	ACSS1	trans	lymphoblastoid	RTeQTL
rs2441978	C9orf16	trans	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57826400-57838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
3	chr11:57828600-57835200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57829400-57833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:57830000-57835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:57830000-57836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:57830600-57834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:57830600-57835000	Weak transcription	NHEK	skin
9	chr11:57831200-57834400	Enhancers	HepG2	liver
10	chr11:57832200-57835000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:57832400-57833000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:57832400-57833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:57832800-57833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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