Variant report

Variant	rs12416814
Chromosome Location	chr11:75927441-75927442
allele	A/C
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	PBX3	chr11:75926994-75927470	SK-N-SH	brain:	n/a	chr11:75927144-75927153
2	POLR2A	chr11:75925908-75930523	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75919561..75922222-chr11:75927095..75929446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255362	TF binding region
ENSG00000085741	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1357121	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs2447947	0.83[JPT][hapmap]
rs4387369	0.86[CEU][hapmap];0.93[CHB][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap]
rs4944093	0.85[ASN][1000 genomes]
rs61894426	0.83[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	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1037670	chr11:75869435-75956348	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1035371	chr11:75869435-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1046769	chr11:75869737-75964374	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1040118	chr11:75870189-75995089	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1044894	chr11:75871240-75964374	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1053129	chr11:75871240-75997663	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv897928	chr11:75875037-75931291	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv555446	chr11:75875037-75936942	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv984475	chr11:75891800-75943874	Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12416814	ACER3	cis	cerebellum	SCAN
rs12416814	MRPL48	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75922200-75936400	Weak transcription	Right Atrium	heart
2	chr11:75926000-75927600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:75926000-75928200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:75926000-75931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:75926200-75927800	Enhancers	HSMMtube	muscle
6	chr11:75926200-75929200	Enhancers	NHDF-Ad	bronchial
7	chr11:75926600-75927600	Enhancers	Osteobl	bone
8	chr11:75926600-75927800	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:75926600-75928400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:75926800-75927600	Enhancers	NH-A	brain
11	chr11:75926800-75928000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:75926800-75928200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:75926800-75928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:75926800-75928200	Enhancers	Pancreas	Pancrea
15	chr11:75927000-75927600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:75927000-75927800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:75927000-75928000	Enhancers	Fetal Muscle Leg	muscle
18	chr11:75927000-75928000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:75927200-75927800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr11:75927200-75928000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:75927200-75928000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:75927400-75927600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75927400-75927600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:75927400-75927600	Enhancers	Spleen	Spleen
25	chr11:75927400-75928000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:75927400-75928000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:75927400-75928000	Bivalent Enhancer	HepG2	liver
28	chr11:75927400-75928200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:75927400-75928200	Enhancers	Fetal Lung	lung

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