Variant report

Variant	rs6571481
Chromosome Location	chr14:32355076-32355077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10130764	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141141	0.87[ASN][1000 genomes]
rs10148852	0.84[GIH][hapmap]
rs10150448	0.86[AMR][1000 genomes]
rs10348	0.80[CHD][hapmap]
rs10483392	0.98[ASN][1000 genomes]
rs11156717	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1129622	0.80[CHD][hapmap]
rs12431828	0.93[ASN][1000 genomes]
rs12589862	0.86[JPT][hapmap]
rs17466348	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1889387	0.89[ASN][1000 genomes]
rs1953270	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1959071	0.82[GIH][hapmap]
rs1959073	0.84[ASN][1000 genomes]
rs1959074	0.83[ASN][1000 genomes]
rs1959075	0.84[ASN][1000 genomes]
rs2039484	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2039485	0.95[ASN][1000 genomes]
rs2839946	1.00[YRI][hapmap]
rs2890046	0.81[ASN][1000 genomes]
rs4474604	0.83[ASN][1000 genomes]
rs4981112	0.84[ASW][hapmap]
rs4981921	0.82[ASN][1000 genomes]
rs4981922	0.82[ASN][1000 genomes]
rs7144599	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145823	0.84[ASW][hapmap]
rs7148374	0.94[ASN][1000 genomes]
rs7149538	0.99[ASN][1000 genomes]
rs7154334	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8003195	0.93[ASN][1000 genomes]
rs8003582	0.86[AMR][1000 genomes]
rs8008192	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012634	1.00[YRI][hapmap]
rs8016004	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021532	0.99[ASN][1000 genomes]
rs8021918	0.82[CEU][hapmap];0.84[GIH][hapmap];0.84[MEX][hapmap]
rs8022047	0.93[ASN][1000 genomes]
rs8022995	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6571481	GKAP1	trans	cerebellum	SCAN
rs6571481	ARHGAP5	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32347000-32361400	Weak transcription	Right Atrium	heart
2	chr14:32349600-32355200	Enhancers	HMEC	breast
3	chr14:32349800-32355200	Enhancers	NHEK	skin
4	chr14:32349800-32356000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:32350600-32360600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:32351400-32355400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:32351600-32362000	Weak transcription	Right Ventricle	heart
8	chr14:32351800-32355400	Weak transcription	Osteobl	bone
9	chr14:32351800-32360600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:32351800-32361400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:32351800-32361400	Weak transcription	Left Ventricle	heart
12	chr14:32351800-32361600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:32351800-32362000	Weak transcription	Adipose Nuclei	Adipose
14	chr14:32351800-32362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:32351800-32362800	Weak transcription	Spleen	Spleen
16	chr14:32352000-32357800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:32354000-32356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:32354200-32355600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:32354400-32355600	Weak transcription	NH-A	brain
20	chr14:32354400-32356200	Weak transcription	NHLF	lung
21	chr14:32354400-32362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:32354400-32364600	Weak transcription	HSMM	muscle
23	chr14:32354600-32356600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:32354800-32356000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:32355000-32355800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:32355000-32356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:32355000-32362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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