Variant report

Variant	rs6667630
Chromosome Location	chr1:71381040-71381041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17090676	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2744910	1.00[AMR][1000 genomes]
rs2744912	1.00[AMR][1000 genomes]
rs2744913	1.00[AMR][1000 genomes]
rs2744917	1.00[AMR][1000 genomes]
rs2817856	1.00[AMR][1000 genomes]
rs2817859	1.00[AMR][1000 genomes]
rs2817861	1.00[AMR][1000 genomes]
rs2817862	1.00[AMR][1000 genomes]
rs2817863	1.00[AMR][1000 genomes]
rs4146734	1.00[AMR][1000 genomes]
rs5689	1.00[AMR][1000 genomes]
rs6424416	1.00[AMR][1000 genomes]
rs6424417	1.00[AMR][1000 genomes]
rs6661368	1.00[AMR][1000 genomes]
rs7539573	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425056	1.00[AMR][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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71377400-71381200	Weak transcription	K562	blood
2	chr1:71380400-71382200	Enhancers	Adipose Nuclei	Adipose
3	chr1:71380400-71383400	Enhancers	Dnd41	blood
4	chr1:71380600-71381200	Enhancers	Brain Germinal Matrix	brain
5	chr1:71380600-71381600	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:71380800-71381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:71380800-71381400	Enhancers	Colon Smooth Muscle	Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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