Variant report

Variant	rs74113578
Chromosome Location	chr1:120010279-120010280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10802096	1.00[EUR][1000 genomes]
rs10802098	0.81[AFR][1000 genomes]
rs10923830	0.87[EUR][1000 genomes]
rs10923833	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804864	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404544	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406401	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818928	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60945833	0.96[EUR][1000 genomes]
rs6673366	0.87[EUR][1000 genomes]
rs6677283	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693235	1.00[EUR][1000 genomes]
rs6693243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701346	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701556	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74113567	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74113568	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524361	0.87[EUR][1000 genomes]
rs7531186	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv470733	chr1:119991429-120018155	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1002204	chr1:119998794-120033837	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1013126	chr1:119998794-120036937	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv946179	chr1:120007180-120016651	Enhancers Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120003400-120011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:120008600-120011200	Enhancers	Adipose Nuclei	Adipose
3	chr1:120008600-120011400	Enhancers	Fetal Intestine Small	intestine
4	chr1:120008600-120012200	Enhancers	Liver	Liver
5	chr1:120008600-120012400	Enhancers	Fetal Intestine Large	intestine
6	chr1:120008800-120010600	Enhancers	Fetal Lung	lung
7	chr1:120008800-120012200	Enhancers	HepG2	liver
8	chr1:120009200-120010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:120009400-120010600	Enhancers	HMEC	breast
10	chr1:120009400-120011000	Enhancers	NHEK	skin
11	chr1:120009400-120011200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:120009600-120010400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:120009600-120010600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:120009600-120010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:120009600-120011000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:120009800-120011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:120009800-120011200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:120010200-120011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:120010200-120015600	Weak transcription	Placenta	Placenta

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