Variant report

Variant	rs73097395
Chromosome Location	chr5:58816492-58816493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16889906	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16889912	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16889913	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61349922	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6870929	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73097370	0.92[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73097399	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73099606	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73758975	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73760623	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7729339	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7734463	0.84[AFR][1000 genomes];0.95[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	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58801400-58817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:58811200-58817000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:58814200-58818200	Weak transcription	HSMMtube	muscle
7	chr5:58814400-58817200	Weak transcription	Fetal Intestine Large	intestine
8	chr5:58814400-58818200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:58814400-58818600	Weak transcription	Stomach Mucosa	stomach
10	chr5:58814400-58820400	Weak transcription	Psoas Muscle	Psoas
11	chr5:58814600-58817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:58814600-58817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:58814600-58817200	Weak transcription	NHEK	skin
14	chr5:58814600-58818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:58814600-58823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:58815000-58817000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:58815400-58817000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:58815400-58818000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:58815600-58818200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:58815600-58821400	Weak transcription	HUVEC	blood vessel
22	chr5:58815800-58823600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:58816400-58817400	Enhancers	A549	lung

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