Variant report

Variant	rs11620990
Chromosome Location	chr14:56188243-56188244
allele	C/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:11)

rs_ID	r²[population]
rs11621130	0.86[CEU][hapmap];0.81[YRI][hapmap]
rs12436057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2152283	0.81[ASN][1000 genomes]
rs2152284	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184558	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2184559	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8010380	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs869427	0.82[ASN][1000 genomes]
rs869662	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs869663	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs870924	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901967	chr14:56183127-56252062	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901968	chr14:56183127-56256651	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901972	chr14:56185501-56256651	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv901973	chr14:56185908-56252062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
2	chr14:56179800-56188800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:56179800-56189000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:56185600-56189200	Weak transcription	HSMMtube	muscle
5	chr14:56187600-56188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:56187600-56188600	Enhancers	NHDF-Ad	bronchial
7	chr14:56187600-56188800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:56187600-56188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:56187600-56188800	Enhancers	NHEK	skin
10	chr14:56187600-56189200	Enhancers	Hela-S3	cervix
11	chr14:56187800-56188600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:56187800-56188600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:56187800-56188600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:56187800-56188600	Enhancers	HUVEC	blood vessel
15	chr14:56187800-56188800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:56187800-56188800	Enhancers	NH-A	brain
17	chr14:56187800-56189000	Enhancers	HMEC	breast
18	chr14:56188000-56188400	Enhancers	Stomach Mucosa	stomach
19	chr14:56188000-56188600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:56188200-56188400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:56188200-56188400	Enhancers	Pancreas	Pancrea
22	chr14:56188200-56189000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:56188200-56189000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:56188200-56190200	Enhancers	Brain Germinal Matrix	brain

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