Variant report

Variant	rs61231950
Chromosome Location	chr1:95514364-95514365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57591007	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57765682	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58056748	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58810066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60433630	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61211591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6593664	0.83[EUR][1000 genomes]
rs72720237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720240	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72720242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720244	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
3	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
5	chr1:95506000-95517000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
7	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:95509000-95528000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:95509200-95525600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:95509400-95515800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:95509400-95527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95509400-95532800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:95509400-95534200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:95509600-95526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:95513600-95514400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95513600-95514400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:95513600-95514600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:95513600-95514600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:95513800-95515600	Enhancers	Liver	Liver
20	chr1:95514000-95514400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:95514200-95527400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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