Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495987	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1156742	0.90[ASN][1000 genomes]
rs12465974	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621581	0.82[JPT][hapmap]
rs12624115	0.85[ASN][1000 genomes]
rs12998574	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs13016900	0.93[EUR][1000 genomes]
rs1363046	0.86[JPT][hapmap]
rs1421586	0.82[JPT][hapmap]
rs1421594	0.86[JPT][hapmap]
rs1592729	0.81[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17039529	0.82[JPT][hapmap]
rs17039564	0.82[JPT][hapmap]
rs17039575	0.82[JPT][hapmap]
rs2350803	0.93[EUR][1000 genomes]
rs3850356	0.98[ASN][1000 genomes]
rs4461296	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6545136	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713560	0.86[JPT][hapmap]
rs6713940	0.86[JPT][hapmap]
rs725323	0.82[JPT][hapmap]
rs7573698	0.86[JPT][hapmap]
rs7574241	0.86[JPT][hapmap]
rs9679140	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs971732	KLRAQ1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50140800-50142200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:50140800-50142200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:50140800-50142200	Enhancers	HMEC	breast
4	chr2:50140800-50143000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:50141000-50142200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:50141000-50142400	Enhancers	NHEK	skin
7	chr2:50141000-50143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:50141200-50142400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:50141400-50142200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:50142000-50142200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:50142000-50142600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:50142000-50151000	Weak transcription	Brain Cingulate Gyrus	brain

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