Variant report

Variant	rs4755447
Chromosome Location	chr11:36278366-36278367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36270328..36271830-chr11:36277590..36279604,2	K562	blood:
2	chr11:35638995..35641782-chr11:36276960..36279834,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179431	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10734442	0.98[AFR][1000 genomes]
rs10742367	0.96[AFR][1000 genomes]
rs10768202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901671	0.80[AFR][1000 genomes]
rs7106314	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114323	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4755447	EIF3M	cis	cerebellum	SCAN
rs4755447	CAPRIN1	cis	parietal	SCAN
rs4755447	WT1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36271600-36280000	Weak transcription	Fetal Kidney	kidney
2	chr11:36274000-36279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:36275200-36279000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:36275400-36278400	Weak transcription	Brain Anterior Caudate	brain
5	chr11:36275400-36280000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:36275600-36278400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:36275600-36279000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:36275600-36279800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:36275600-36280200	Weak transcription	Fetal Brain Male	brain
10	chr11:36276600-36280200	Weak transcription	A549	lung
11	chr11:36276800-36278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:36276800-36278400	Weak transcription	HSMM	muscle
13	chr11:36276800-36278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:36276800-36279000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:36276800-36294400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:36278000-36278400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:36278000-36278400	Weak transcription	HMEC	breast
18	chr11:36278000-36278800	Weak transcription	Brain Germinal Matrix	brain
19	chr11:36278200-36278400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:36278200-36278400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:36278200-36278400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:36278200-36278400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:36278200-36278600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:36278200-36280000	Enhancers	NHEK	skin
25	chr11:36278200-36280200	Weak transcription	Pancreas	Pancrea
26	chr11:36278200-36281400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:36278200-36292600	Weak transcription	Esophagus	oesophagus
28	chr11:36278200-36293200	Weak transcription	Fetal Lung	lung

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