Variant report

Variant	rs73751105
Chromosome Location	chr5:37684899-37684900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1878598	1.00[AMR][1000 genomes]
rs28522523	0.89[AFR][1000 genomes]
rs55759352	0.89[AFR][1000 genomes]
rs55809800	0.89[AFR][1000 genomes]
rs57215834	0.89[AFR][1000 genomes]
rs60352349	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6865935	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889115	1.00[AMR][1000 genomes]
rs73751117	0.89[AFR][1000 genomes]
rs73751118	0.89[AFR][1000 genomes]
rs73751122	0.94[AFR][1000 genomes]
rs73751123	0.89[AFR][1000 genomes]
rs7728471	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37680200-37690400	Weak transcription	Aorta	Aorta
2	chr5:37681000-37689000	Weak transcription	Right Ventricle	heart
3	chr5:37682200-37698000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:37682800-37696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:37683400-37688800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37683600-37685200	Strong transcription	Primary B cells from cord blood	blood
7	chr5:37683600-37694200	Weak transcription	Dnd41	blood
8	chr5:37683800-37696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:37684000-37685000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:37684400-37700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:37684400-37705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:37684600-37685200	Weak transcription	Fetal Stomach	stomach
13	chr5:37684800-37685000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:37684800-37685200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:37684800-37685400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:37684800-37685400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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