Variant report

Variant	rs4755448
Chromosome Location	chr11:36278734-36278735
allele	G/T
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: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10734442	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742365	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10742367	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768203	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11551023	0.82[CHB][hapmap]
rs11603810	0.82[CHB][hapmap]
rs1374372	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1374373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405098	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197600	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289980	0.82[CHB][hapmap]
rs2422184	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901671	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4755444	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs4756301	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7110932	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945114	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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
rs4755448	EIF3M	cis	cerebellum	SCAN
rs4755448	WT1	cis	cerebellum	SCAN
rs4755448	FJX1	cis	cerebellum	SCAN

Chromatin state (count:31 , 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	chr11:36275400-36280000	Weak transcription	Brain Angular Gyrus	brain
5	chr11:36275600-36279000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:36275600-36279800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:36275600-36280200	Weak transcription	Fetal Brain Male	brain
8	chr11:36276600-36280200	Weak transcription	A549	lung
9	chr11:36276800-36278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:36276800-36279000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:36276800-36294400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:36278000-36278800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:36278200-36280000	Enhancers	NHEK	skin
14	chr11:36278200-36280200	Weak transcription	Pancreas	Pancrea
15	chr11:36278200-36281400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:36278200-36292600	Weak transcription	Esophagus	oesophagus
17	chr11:36278200-36293200	Weak transcription	Fetal Lung	lung
18	chr11:36278400-36278800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:36278400-36278800	Enhancers	Brain Substantia Nigra	brain
20	chr11:36278400-36279000	Enhancers	Fetal Intestine Small	intestine
21	chr11:36278400-36279200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:36278400-36279200	Enhancers	HMEC	breast
23	chr11:36278400-36279200	Enhancers	HSMM	muscle
24	chr11:36278400-36279600	Enhancers	Hela-S3	cervix
25	chr11:36278400-36279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:36278400-36280400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:36278400-36281400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:36278600-36278800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:36278600-36279000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:36278600-36279200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:36278600-36281000	Enhancers	Cortex derived primary cultured neurospheres	brain

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