Variant report

Variant	rs1541865
Chromosome Location	chr2:67893918-67893919
allele	A/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:17)

rs_ID	r²[population]
rs1367459	0.97[EUR][1000 genomes]
rs1367460	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs1367463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1541864	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1549782	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1583156	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1594415	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1991640	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2861711	0.98[EUR][1000 genomes]
rs4671819	0.87[EUR][1000 genomes]
rs4671820	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4671822	0.96[EUR][1000 genomes]
rs4671824	0.81[EUR][1000 genomes]
rs4671828	0.97[EUR][1000 genomes]
rs6733362	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs7557615	0.97[EUR][1000 genomes]
rs971096	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1541865	ACTR2	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67891400-67894600	Weak transcription	Aorta	Aorta
2	chr2:67893200-67894000	Enhancers	Right Ventricle	heart
3	chr2:67893200-67895400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:67893200-67895600	Enhancers	Psoas Muscle	Psoas
5	chr2:67893200-67895600	Enhancers	Right Atrium	heart
6	chr2:67893200-67895800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:67893200-67903600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:67893400-67894000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:67893400-67894000	Enhancers	Hela-S3	cervix
10	chr2:67893400-67894600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:67893400-67894600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:67893400-67895000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:67893400-67895000	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:67893400-67895600	Enhancers	Fetal Stomach	stomach
15	chr2:67893600-67894000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:67893600-67894000	Enhancers	Adipose Nuclei	Adipose
17	chr2:67893600-67894400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:67893600-67894800	Enhancers	Fetal Lung	lung
19	chr2:67893600-67895200	Enhancers	Fetal Kidney	kidney
20	chr2:67893600-67895400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:67893600-67895400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:67893600-67903000	Weak transcription	Left Ventricle	heart
23	chr2:67893800-67894000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:67893800-67894600	Enhancers	Brain Germinal Matrix	brain
25	chr2:67893800-67896200	Weak transcription	Fetal Brain Male	brain
26	chr2:67893800-67899200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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