Variant report

Variant	rs1993456
Chromosome Location	chr5:95951576-95951577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17086339	0.83[ASN][1000 genomes]
rs17086371	0.87[ASN][1000 genomes]
rs1993457	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885297	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899206	0.98[ASN][1000 genomes]
rs7736961	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95949600-95953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:95950400-95951600	Enhancers	NHEK	skin
3	chr5:95950400-95953000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:95950400-95953200	Enhancers	HMEC	breast
5	chr5:95950400-95963000	Weak transcription	Stomach Mucosa	stomach
6	chr5:95950800-95952000	Weak transcription	Colonic Mucosa	Colon
7	chr5:95950800-95960400	Weak transcription	A549	lung
8	chr5:95951000-95951600	Enhancers	Esophagus	oesophagus
9	chr5:95951000-95951600	Enhancers	Right Atrium	heart
10	chr5:95951200-95952200	Weak transcription	HepG2	liver
11	chr5:95951200-95952400	Weak transcription	Small Intestine	intestine
12	chr5:95951200-95952800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:95951400-95952400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:95951400-95952600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:95951400-95961400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:95951400-95965000	Weak transcription	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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