Variant report

Variant	rs353590
Chromosome Location	chr11:35120741-35120742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35118109..35120819-chr11:35160068..35162189,2	MCF-7	breast:
2	chr11:35119423..35121112-chr11:35124669..35126752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000026508	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2467600	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2467601	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732570	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs353586	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs353592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353595	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353597	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353604	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353606	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs353607	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353608	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4755390	0.82[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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' 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 target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv975326	chr11:35103908-35125981	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs353590	EIF3M	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35110400-35124000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:35118400-35124600	Enhancers	Colon Smooth Muscle	Colon
3	chr11:35118600-35124000	Enhancers	Adipose Nuclei	Adipose
4	chr11:35118600-35125200	Enhancers	Stomach Smooth Muscle	stomach
5	chr11:35119400-35121600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:35119400-35122400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:35119400-35122600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:35119400-35123000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:35119400-35123400	Enhancers	NHDF-Ad	bronchial
10	chr11:35119400-35124600	Enhancers	Fetal Stomach	stomach
11	chr11:35119400-35125400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:35119400-35127200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:35119600-35121600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:35119600-35122400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:35119600-35122800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:35119600-35123000	Enhancers	NHLF	lung
17	chr11:35119600-35123200	Enhancers	Aorta	Aorta
18	chr11:35119600-35123400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:35119600-35124400	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:35119600-35126400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:35119800-35121200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:35119800-35123000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:35120400-35120800	Enhancers	Left Ventricle	heart
24	chr11:35120400-35121000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:35120400-35121200	Enhancers	Psoas Muscle	Psoas
26	chr11:35120400-35121400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:35120400-35121400	Enhancers	Right Atrium	heart
28	chr11:35120400-35121800	Enhancers	Hela-S3	cervix
29	chr11:35120400-35121800	Enhancers	HMEC	breast
30	chr11:35120400-35121800	Enhancers	HSMM	muscle
31	chr11:35120400-35121800	Enhancers	HSMMtube	muscle
32	chr11:35120400-35121800	Enhancers	NHEK	skin
33	chr11:35120400-35122000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:35120400-35123000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:35120400-35123000	Enhancers	Osteobl	bone
36	chr11:35120600-35120800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:35120600-35121200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:35120600-35121200	Enhancers	Brain Hippocampus Middle	brain
39	chr11:35120600-35121200	Weak transcription	Placenta	Placenta
40	chr11:35120600-35121400	Enhancers	K562	blood
41	chr11:35120600-35121800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:35120600-35121800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:35120600-35121800	Enhancers	A549	lung
44	chr11:35120600-35122200	Weak transcription	Lung	lung
45	chr11:35120600-35122400	Enhancers	NH-A	brain

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