Variant report

Variant	rs17114400
Chromosome Location	chr1:57283769-57283770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11206926	0.84[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11206928	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11585758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083976	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17114419	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17114421	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60932560	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588652	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6588653	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673223	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6694438	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72911331	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72911335	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7523601	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536170	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7536567	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7548156	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs947636	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17114400	COIL	trans	parietal	SCAN
rs17114400	ZYG11B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57278800-57284400	Weak transcription	Right Ventricle	heart
2	chr1:57280000-57283800	Weak transcription	Gastric	stomach
3	chr1:57280400-57285000	Weak transcription	Lung	lung
4	chr1:57280800-57284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:57281400-57284000	Enhancers	Fetal Intestine Large	intestine
6	chr1:57281400-57284600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
8	chr1:57282000-57283800	Enhancers	HepG2	liver
9	chr1:57282000-57285600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:57282400-57283800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:57282800-57283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57282800-57285800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:57283000-57284200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:57283000-57285400	Enhancers	NHEK	skin
15	chr1:57283000-57285600	Weak transcription	Hela-S3	cervix
16	chr1:57283000-57285800	Enhancers	Fetal Heart	heart
17	chr1:57283000-57286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:57283000-57287200	Enhancers	Placenta	Placenta
19	chr1:57283200-57284200	Weak transcription	HMEC	breast
20	chr1:57283400-57283800	Flanking Active TSS	Liver	Liver
21	chr1:57283400-57283800	Weak transcription	Psoas Muscle	Psoas
22	chr1:57283400-57284200	Enhancers	Fetal Kidney	kidney
23	chr1:57283400-57284600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:57283400-57284800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:57283400-57285400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:57283400-57287200	Enhancers	Esophagus	oesophagus
27	chr1:57283600-57283800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:57283600-57284000	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:57283600-57284600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:57283600-57284600	Enhancers	Osteobl	bone
31	chr1:57283600-57285000	Active TSS	Left Ventricle	heart
32	chr1:57283600-57285400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:57283600-57285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:57283600-57286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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