Variant report

Variant	rs1430779
Chromosome Location	chr2:67878108-67878109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67464250..67465118-chr2:67877852..67878567,2	MCF-7	breast:
2	chr2:67871857..67874448-chr2:67877443..67879298,2	K562	blood:
3	chr2:67877825..67878403-chr5:28935689..28936434,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1367473	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430780	0.97[ASN][1000 genomes]
rs1430781	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430782	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6737368	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6749904	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891533	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9712235	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[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	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
rs1430779	ACTR2	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67875000-67878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:67875200-67879000	Enhancers	Hela-S3	cervix
4	chr2:67875200-67879200	Enhancers	Fetal Stomach	stomach
5	chr2:67875600-67878800	Enhancers	Adipose Nuclei	Adipose
6	chr2:67876200-67878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:67876200-67878800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:67876200-67879000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:67876200-67879000	Enhancers	Colon Smooth Muscle	Colon
10	chr2:67876200-67879000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:67876200-67879000	Enhancers	Ovary	ovary
12	chr2:67876200-67879200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:67876400-67878400	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:67876400-67878800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:67876400-67878800	Enhancers	A549	lung
16	chr2:67876400-67878800	Enhancers	HSMM	muscle
17	chr2:67876400-67879000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:67876400-67879000	Enhancers	NHDF-Ad	bronchial
19	chr2:67876400-67879400	Enhancers	Brain Germinal Matrix	brain
20	chr2:67876600-67879000	Enhancers	HSMMtube	muscle
21	chr2:67876600-67879000	Enhancers	NH-A	brain
22	chr2:67876800-67878200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:67876800-67878200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:67876800-67878600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:67876800-67878800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:67876800-67878800	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr2:67877200-67878400	Enhancers	Fetal Brain Female	brain
28	chr2:67877200-67878400	Enhancers	Fetal Intestine Large	intestine
29	chr2:67877200-67878400	Weak transcription	Fetal Kidney	kidney
30	chr2:67877200-67879000	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:67877200-67879600	Enhancers	Fetal Lung	lung
32	chr2:67877400-67878200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:67877400-67878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:67877400-67878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:67877400-67878600	Weak transcription	Right Ventricle	heart
36	chr2:67877400-67878800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:67877400-67879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:67877600-67878200	Enhancers	Brain Hippocampus Middle	brain
39	chr2:67877600-67878200	Weak transcription	Left Ventricle	heart
40	chr2:67877600-67878200	Weak transcription	Psoas Muscle	Psoas
41	chr2:67877600-67878600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:67877800-67878200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:67877800-67878200	Enhancers	Placenta	Placenta
44	chr2:67877800-67878200	Enhancers	HepG2	liver
45	chr2:67877800-67878400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:67877800-67878400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:67877800-67878400	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:67877800-67878800	Enhancers	Osteobl	bone
49	chr2:67878000-67878200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:67878000-67878200	Enhancers	Gastric	stomach

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