Variant report

Variant	rs34740
Chromosome Location	chr5:58583449-58583450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs190433	0.87[ASN][1000 genomes]
rs2591825	0.84[ASN][1000 genomes]
rs27176	0.92[ASN][1000 genomes]
rs27179	0.91[ASN][1000 genomes]
rs27180	0.92[ASN][1000 genomes]
rs27181	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28044	0.91[ASN][1000 genomes]
rs34738	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700329	0.86[ASN][1000 genomes]
rs545611	0.84[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
2	chr5:58582400-58587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58582800-58583600	Enhancers	Psoas Muscle	Psoas
4	chr5:58582800-58583800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:58582800-58584000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:58582800-58584200	Enhancers	HUVEC	blood vessel
7	chr5:58583000-58583600	Enhancers	Left Ventricle	heart
8	chr5:58583000-58583600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:58583000-58583600	Enhancers	Spleen	Spleen
10	chr5:58583000-58583800	Enhancers	Right Ventricle	heart
11	chr5:58583000-58584000	Enhancers	Gastric	stomach
12	chr5:58583000-58584000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:58583000-58584000	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:58583000-58584000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr5:58583000-58584200	Enhancers	Fetal Heart	heart
16	chr5:58583000-58584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:58583200-58583600	Enhancers	Esophagus	oesophagus
18	chr5:58583200-58584000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:58583200-58584000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:58583200-58584000	Flanking Active TSS	A549	lung
21	chr5:58583200-58584000	Enhancers	HMEC	breast
22	chr5:58583400-58583600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr5:58583400-58583600	Enhancers	Hela-S3	cervix
24	chr5:58583400-58583800	Enhancers	Stomach Mucosa	stomach
25	chr5:58583400-58584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:58583400-58584000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:58583400-58584000	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58583400-58584200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:58583400-58584200	Enhancers	NHEK	skin

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