Variant report

Variant	rs2478177
Chromosome Location	chr1:92072958-92072959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518499	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11165059	0.83[EUR][1000 genomes]
rs11165064	0.87[EUR][1000 genomes]
rs12132074	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12135487	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17504418	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17569909	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17569923	0.95[EUR][1000 genomes]
rs17569956	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55996639	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59072552	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59178722	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72712451	0.87[EUR][1000 genomes]
rs72712461	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv947497	chr1:92067233-92076450	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92062400-92074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
4	chr1:92068800-92074400	Weak transcription	Placenta	Placenta
5	chr1:92069600-92074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:92070200-92075600	Weak transcription	Right Atrium	heart
7	chr1:92070600-92073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:92070600-92074200	Weak transcription	A549	lung
9	chr1:92070600-92074400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:92070600-92074600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:92070600-92074800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:92070600-92074800	Weak transcription	Left Ventricle	heart
13	chr1:92070800-92074000	Weak transcription	NHDF-Ad	bronchial
14	chr1:92070800-92074400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:92070800-92074400	Weak transcription	HSMM	muscle
16	chr1:92070800-92074600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:92070800-92074800	Weak transcription	HSMMtube	muscle
18	chr1:92071000-92074600	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:92071600-92075000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:92072200-92073400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:92072200-92074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:92072400-92075400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:92072600-92073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:92072600-92076200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:92072600-92077600	Weak transcription	Ovary	ovary
26	chr1:92072800-92074400	Weak transcription	HepG2	liver
27	chr1:92072800-92074600	Weak transcription	Fetal Heart	heart

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