Variant report

Variant	rs27179
Chromosome Location	chr5:58587312-58587313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs190433	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2591825	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27178	0.82[JPT][hapmap]
rs27180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs27181	0.91[ASN][1000 genomes]
rs28044	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34738	0.85[ASN][1000 genomes]
rs34740	0.91[ASN][1000 genomes]
rs4700329	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs545611	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[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	chr5:58583600-58589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
6	chr5:58583800-58591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58584000-58588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58584000-58588600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58584000-58588600	Weak transcription	HMEC	breast
10	chr5:58584000-58589000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58584000-58589400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:58584000-58591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:58584200-58587800	Weak transcription	Fetal Heart	heart
15	chr5:58584200-58588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:58584200-58588600	Weak transcription	NHEK	skin
17	chr5:58584800-58587600	Weak transcription	Hela-S3	cervix
18	chr5:58584800-58592400	Weak transcription	Fetal Intestine Large	intestine
19	chr5:58585400-58588400	Enhancers	A549	lung
20	chr5:58585800-58587800	Weak transcription	HUVEC	blood vessel
21	chr5:58587000-58587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:58587000-58588600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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