Variant report

Variant	rs72767802
Chromosome Location	chr5:58817271-58817272
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]
rs10514860	0.84[EUR][1000 genomes]
rs11949561	0.83[EUR][1000 genomes]
rs12187079	0.84[EUR][1000 genomes]
rs17740749	0.82[EUR][1000 genomes]
rs17740767	0.81[EUR][1000 genomes]
rs17796824	0.83[EUR][1000 genomes]
rs17797601	0.85[EUR][1000 genomes]
rs4326095	0.83[EUR][1000 genomes]
rs4551023	0.83[EUR][1000 genomes]
rs56396168	0.83[EUR][1000 genomes]
rs6861969	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72767801	0.82[EUR][1000 genomes]
rs72769704	0.84[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:58814200-58818200	Weak transcription	HSMMtube	muscle
5	chr5:58814400-58818200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:58814400-58818600	Weak transcription	Stomach Mucosa	stomach
7	chr5:58814400-58820400	Weak transcription	Psoas Muscle	Psoas
8	chr5:58814600-58818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:58814600-58823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:58815400-58818000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:58815600-58818200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:58815600-58821400	Weak transcription	HUVEC	blood vessel
14	chr5:58815800-58823600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:58816400-58817400	Enhancers	A549	lung
16	chr5:58817000-58817400	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:58817000-58817400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:58817000-58817400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:58817000-58817400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:58817000-58817600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:58817000-58817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:58817000-58817800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:58817000-58817800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:58817000-58819000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:58817200-58817600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:58817200-58817600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:58817200-58818400	Enhancers	NHEK	skin
28	chr5:58817200-58818800	Enhancers	Fetal Intestine Large	intestine

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