Variant report

Variant	rs12059461
Chromosome Location	chr1:47151619-47151620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1258045	1.00[JPT][hapmap]
rs56887844	1.00[AMR][1000 genomes]
rs57116534	1.00[AMR][1000 genomes]
rs6699593	1.00[AMR][1000 genomes]
rs6699594	1.00[AMR][1000 genomes]
rs956527	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47134600-47153000	Weak transcription	Right Atrium	heart
2	chr1:47134600-47157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:47134800-47152600	Weak transcription	A549	lung
4	chr1:47138000-47152000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr1:47138000-47157800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:47138200-47152200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:47138200-47152600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:47138200-47159400	Strong transcription	Placenta	Placenta
9	chr1:47138400-47152200	Strong transcription	Adipose Nuclei	Adipose
10	chr1:47138400-47158800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:47138400-47159400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:47138600-47152400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr1:47138800-47152800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:47138800-47153200	Strong transcription	Fetal Muscle Leg	muscle
15	chr1:47138800-47158600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:47139000-47152400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:47139000-47152800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:47139000-47159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:47139200-47153000	Weak transcription	Fetal Heart	heart
20	chr1:47139200-47153400	Strong transcription	Dnd41	blood
21	chr1:47139200-47159400	Strong transcription	Brain Germinal Matrix	brain
22	chr1:47139200-47159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:47139400-47152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:47139400-47152600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:47139400-47153000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:47139400-47159600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:47139600-47152800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:47139600-47153000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:47139600-47159400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:47139800-47152800	Strong transcription	Osteobl	bone
31	chr1:47140000-47155400	Strong transcription	HSMM	muscle
32	chr1:47141200-47157800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:47142000-47153000	Strong transcription	Liver	Liver
35	chr1:47142000-47159400	Strong transcription	K562	blood
36	chr1:47142000-47159800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:47142400-47158000	Strong transcription	HMEC	breast
38	chr1:47142600-47158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:47142600-47159200	Strong transcription	GM12878-XiMat	blood
40	chr1:47142600-47159400	Strong transcription	NHEK	skin
41	chr1:47142800-47152600	Strong transcription	Fetal Lung	lung
42	chr1:47142800-47158800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:47142800-47159600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:47142800-47159800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:47143200-47153600	Strong transcription	Brain Angular Gyrus	brain
46	chr1:47143200-47159400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:47143200-47159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:47143200-47159800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:47143600-47158400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:47143600-47159400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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