Variant report

Variant	rs153948
Chromosome Location	chr5:58577447-58577448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1457146	0.82[ASN][1000 genomes]
rs149106	0.95[ASN][1000 genomes]
rs153949	0.96[ASN][1000 genomes]
rs171729	0.84[ASN][1000 genomes]
rs255633	0.85[ASN][1000 genomes]
rs255655	0.84[ASN][1000 genomes]
rs256750	0.81[ASN][1000 genomes]
rs256752	0.84[ASN][1000 genomes]
rs27178	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27183	0.93[ASN][1000 genomes]
rs27184	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27395	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40444	0.92[ASN][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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58571800-58579400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58572000-58582800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58572200-58583000	Weak transcription	Left Ventricle	heart
4	chr5:58572800-58577800	Enhancers	Hela-S3	cervix
5	chr5:58573400-58583400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:58573600-58582800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:58573600-58583000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:58573600-58583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:58573800-58581400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
11	chr5:58574800-58582800	Weak transcription	Psoas Muscle	Psoas
12	chr5:58575400-58581800	Weak transcription	HUVEC	blood vessel
13	chr5:58576200-58577800	Enhancers	A549	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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