Variant report

Variant	rs2441954
Chromosome Location	chr11:57792477-57792478
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17152248	1.00[AMR][1000 genomes]
rs17152254	1.00[AMR][1000 genomes]
rs2084298	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2122804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2441978	1.00[CEU][hapmap]
rs2443451	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2513722	0.85[AFR][1000 genomes]
rs2513723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2514185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2514203	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs686459	1.00[CEU][hapmap]
rs896298	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs896299	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs975831	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][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	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2441954	FAM153A	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57787800-57794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57790200-57792600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:57790200-57792800	Enhancers	Fetal Muscle Leg	muscle
4	chr11:57790800-57792800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:57791200-57792600	Enhancers	NHLF	lung
6	chr11:57791200-57792800	Enhancers	Spleen	Spleen
7	chr11:57791200-57793200	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:57791200-57798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:57791400-57792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:57791400-57792600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr11:57791400-57792800	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:57791400-57792800	Enhancers	HepG2	liver
13	chr11:57791400-57792800	Enhancers	HUVEC	blood vessel
14	chr11:57791400-57793400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:57791400-57793400	Enhancers	Psoas Muscle	Psoas
16	chr11:57791600-57792600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:57791600-57792600	Enhancers	Placenta	Placenta
18	chr11:57791600-57792600	Enhancers	HSMMtube	muscle
19	chr11:57791600-57792800	Enhancers	Lung	lung
20	chr11:57792000-57792600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:57792000-57795400	Weak transcription	Colonic Mucosa	Colon
22	chr11:57792000-57811400	Weak transcription	Right Atrium	heart
23	chr11:57792200-57792600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:57792200-57792600	Enhancers	HSMM	muscle
25	chr11:57792200-57794400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:57792200-57794600	Weak transcription	Osteobl	bone
27	chr11:57792200-57795400	Weak transcription	Left Ventricle	heart
28	chr11:57792200-57795400	Weak transcription	Pancreas	Pancrea
29	chr11:57792400-57792600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:57792400-57793800	Enhancers	Adipose Nuclei	Adipose
31	chr11:57792400-57794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:57792400-57794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57792400-57794600	Weak transcription	Fetal Lung	lung
34	chr11:57792400-57796800	Weak transcription	Esophagus	oesophagus

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