Variant report

Variant	rs34738
Chromosome Location	chr5:58585298-58585299
allele	A/G
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:8)

rs_ID	r²[population]
rs190433	0.82[ASN][1000 genomes]
rs27176	0.86[ASN][1000 genomes]
rs27179	0.85[ASN][1000 genomes]
rs27180	0.86[ASN][1000 genomes]
rs27181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28044	0.85[ASN][1000 genomes]
rs34740	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700329	0.80[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:22 , 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	chr5:58583600-58589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
6	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
7	chr5:58583800-58591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:58584000-58588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58584000-58588600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:58584000-58588600	Weak transcription	HMEC	breast
11	chr5:58584000-58589000	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:58584000-58589400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:58584000-58591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58584200-58587800	Weak transcription	Fetal Heart	heart
16	chr5:58584200-58588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:58584200-58588600	Weak transcription	NHEK	skin
18	chr5:58584800-58585800	Enhancers	HUVEC	blood vessel
19	chr5:58584800-58587000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:58584800-58587600	Weak transcription	Hela-S3	cervix
21	chr5:58584800-58592400	Weak transcription	Fetal Intestine Large	intestine
22	chr5:58585200-58585400	Flanking Active TSS	A549	lung

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