Variant report

Variant	rs12084638
Chromosome Location	chr1:57284639-57284640
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10889019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206922	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206924	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206927	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12137176	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668400	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57280400-57285000	Weak transcription	Lung	lung
2	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
3	chr1:57282000-57285600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:57282800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:57283000-57285400	Enhancers	NHEK	skin
6	chr1:57283000-57285600	Weak transcription	Hela-S3	cervix
7	chr1:57283000-57285800	Enhancers	Fetal Heart	heart
8	chr1:57283000-57286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:57283000-57287200	Enhancers	Placenta	Placenta
10	chr1:57283400-57284800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:57283400-57285400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
13	chr1:57283600-57285000	Active TSS	Left Ventricle	heart
14	chr1:57283600-57285400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:57283600-57285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:57283600-57286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:57283800-57285000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:57283800-57285000	Active TSS	Liver	Liver
19	chr1:57283800-57285400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:57283800-57285400	Enhancers	Gastric	stomach
21	chr1:57283800-57285600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:57283800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:57283800-57286600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:57284000-57285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:57284000-57286600	Weak transcription	Psoas Muscle	Psoas
27	chr1:57284200-57284800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:57284200-57284800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:57284200-57284800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:57284200-57285000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:57284200-57285000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:57284200-57285000	Active TSS	Fetal Thymus	thymus
33	chr1:57284200-57285000	Enhancers	Stomach Mucosa	stomach
34	chr1:57284200-57285200	Enhancers	Fetal Lung	lung
35	chr1:57284200-57285600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:57284200-57285600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:57284200-57285600	Enhancers	Right Atrium	heart
38	chr1:57284200-57285800	Enhancers	HMEC	breast
39	chr1:57284200-57287200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:57284400-57284800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:57284400-57284800	Active TSS	HepG2	liver
42	chr1:57284400-57285400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:57284400-57285400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:57284400-57285400	Enhancers	Right Ventricle	heart
45	chr1:57284400-57285600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:57284400-57285600	Enhancers	Pancreas	Pancrea
47	chr1:57284600-57285000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:57284600-57285000	Enhancers	Fetal Intestine Large	intestine
49	chr1:57284600-57285000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:57284600-57285200	Enhancers	Small Intestine	intestine

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