Variant report

Variant	rs72987842
Chromosome Location	chr1:103540428-103540429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11164656	1.00[EUR][1000 genomes]
rs11164708	1.00[EUR][1000 genomes]
rs12058578	1.00[EUR][1000 genomes]
rs12063403	1.00[EUR][1000 genomes]
rs12070729	1.00[EUR][1000 genomes]
rs13374198	1.00[EUR][1000 genomes]
rs13374615	1.00[EUR][1000 genomes]
rs13374856	1.00[EUR][1000 genomes]
rs13375103	1.00[EUR][1000 genomes]
rs13375231	1.00[EUR][1000 genomes]
rs13375442	1.00[EUR][1000 genomes]
rs13375833	1.00[EUR][1000 genomes]
rs56739111	1.00[EUR][1000 genomes]
rs57009972	1.00[EUR][1000 genomes]
rs57183243	1.00[EUR][1000 genomes]
rs57548736	1.00[EUR][1000 genomes]
rs57799890	1.00[EUR][1000 genomes]
rs57843906	1.00[EUR][1000 genomes]
rs58181035	1.00[EUR][1000 genomes]
rs58451159	1.00[EUR][1000 genomes]
rs58822881	1.00[EUR][1000 genomes]
rs58882054	1.00[EUR][1000 genomes]
rs59050890	1.00[EUR][1000 genomes]
rs59640131	1.00[EUR][1000 genomes]
rs60534143	1.00[EUR][1000 genomes]
rs61120351	1.00[EUR][1000 genomes]
rs61708772	1.00[EUR][1000 genomes]
rs72991510	1.00[EUR][1000 genomes]
rs72991548	1.00[EUR][1000 genomes]
rs72991550	1.00[EUR][1000 genomes]
rs72991570	1.00[EUR][1000 genomes]
rs72991572	1.00[EUR][1000 genomes]
rs74108593	1.00[EUR][1000 genomes]
rs7542495	1.00[EUR][1000 genomes]
rs7542602	1.00[EUR][1000 genomes]
rs7552698	1.00[EUR][1000 genomes]
rs7552870	1.00[EUR][1000 genomes]
rs9988414	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv870600	chr1:103336601-103548497	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871475	chr1:103339272-103548497	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv871078	chr1:103352451-103548497	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv870995	chr1:103384610-103548497	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv871372	chr1:103403752-103564540	Strong transcription Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv871736	chr1:103409100-103548497	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv462783	chr1:103438795-103548497	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv546937	chr1:103438795-103548497	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv871365	chr1:103476179-103548497	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:103517400-103557200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:103517600-103550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103519600-103543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103522400-103559000	Weak transcription	HSMM	muscle
6	chr1:103531200-103544200	Weak transcription	NH-A	brain
7	chr1:103538400-103548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:103538600-103540600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:103539000-103541200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:103539400-103544000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:103539600-103556600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:103539800-103540600	Active TSS	Brain Anterior Caudate	brain
13	chr1:103539800-103540800	Active TSS	Brain Angular Gyrus	brain
14	chr1:103539800-103540800	Active TSS	Brain Hippocampus Middle	brain
15	chr1:103539800-103540800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:103539800-103541000	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:103539800-103546600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:103540400-103540800	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr1:103540400-103543000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:103540400-103545000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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