Variant report

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

rs_ID	r²[population]
rs12697177	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13153653	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1823066	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs1823068	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs255812	0.81[ASN][1000 genomes]
rs2702365	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs35288	0.84[ASN][1000 genomes]
rs35289	0.93[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs6450517	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6877927	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7723695	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13176940	PDE4D	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58625000-58644600	Weak transcription	Left Ventricle	heart
2	chr5:58634400-58647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58635200-58652600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58637200-58646000	Weak transcription	Psoas Muscle	Psoas
5	chr5:58640200-58646000	Weak transcription	Right Ventricle	heart
6	chr5:58640400-58642800	Enhancers	Fetal Heart	heart
7	chr5:58641200-58648000	Enhancers	A549	lung
8	chr5:58641400-58642600	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:58641400-58642800	Enhancers	Hela-S3	cervix
10	chr5:58641400-58643200	Enhancers	Colon Smooth Muscle	Colon
11	chr5:58641600-58643200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:58641600-58643800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:58641800-58643200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:58641800-58646600	Weak transcription	Fetal Brain Female	brain
15	chr5:58642200-58642400	Active TSS	Brain Hippocampus Middle	brain
16	chr5:58642200-58642600	Active TSS	Brain Angular Gyrus	brain
17	chr5:58642200-58642600	Enhancers	Fetal Brain Male	brain
18	chr5:58642200-58643200	Enhancers	Brain Substantia Nigra	brain
19	chr5:58642200-58644400	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:58642200-58653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

Quick Search: