Variant report

Variant	rs74122754
Chromosome Location	chr1:168671003-168671004
allele	A/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:16)

rs_ID	r²[population]
rs12401569	1.00[EUR][1000 genomes]
rs12401592	1.00[EUR][1000 genomes]
rs12403860	1.00[EUR][1000 genomes]
rs12411200	1.00[EUR][1000 genomes]
rs35915405	1.00[EUR][1000 genomes]
rs56168358	1.00[EUR][1000 genomes]
rs58493284	1.00[EUR][1000 genomes]
rs58987681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60429525	1.00[EUR][1000 genomes]
rs73032003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121379	1.00[EUR][1000 genomes]
rs74121380	1.00[EUR][1000 genomes]
rs74122718	1.00[EUR][1000 genomes]
rs74122750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122773	1.00[EUR][1000 genomes]
rs999310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168665600-168673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:168665600-168677600	Weak transcription	Fetal Heart	heart
3	chr1:168666000-168679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:168666200-168675600	Weak transcription	Fetal Stomach	stomach
5	chr1:168669400-168671800	Enhancers	Fetal Intestine Small	intestine
6	chr1:168669600-168671400	Enhancers	Fetal Intestine Large	intestine
7	chr1:168670000-168675800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:168670600-168671600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:168670600-168677800	Weak transcription	Small Intestine	intestine

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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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