Variant report

Variant	rs74145562
Chromosome Location	chr1:222961805-222961806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17011702	1.00[AMR][1000 genomes]
rs17163347	1.00[AMR][1000 genomes]
rs17163458	1.00[AMR][1000 genomes]
rs17163479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17163502	1.00[AMR][1000 genomes]
rs61743732	1.00[AMR][1000 genomes]
rs74145517	1.00[AMR][1000 genomes]
rs74145518	1.00[AMR][1000 genomes]
rs74145541	1.00[AMR][1000 genomes]
rs74145543	1.00[AMR][1000 genomes]
rs74145544	1.00[AMR][1000 genomes]
rs74145547	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145549	0.85[AFR][1000 genomes]
rs74145550	1.00[AMR][1000 genomes]
rs74145551	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:222959000-222962200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:222959600-222962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:222959800-222966400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:222960000-222964400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach
8	chr1:222960200-222964200	Weak transcription	HUVEC	blood vessel
9	chr1:222960400-222964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:222960600-222964000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:222960600-222964400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:222960800-222962200	Enhancers	HSMMtube	muscle
13	chr1:222960800-222962600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:222961200-222962600	Enhancers	GM12878-XiMat	blood
15	chr1:222961400-222962600	Enhancers	Hela-S3	cervix
16	chr1:222961600-222962600	Enhancers	Primary B cells from cord blood	blood
17	chr1:222961600-222964400	Weak transcription	Fetal Lung	lung

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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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