Variant report

Variant	rs2838602
Chromosome Location	chr21:46057393-46057394
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12482870	0.81[JPT][hapmap]
rs1883039	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1883041	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073437	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2210284	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2256490	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2329837	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838595	0.84[EUR][1000 genomes]
rs2838601	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2838610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838612	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2838614	0.90[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2838617	0.95[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838618	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838623	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838624	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838625	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838627	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28542851	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs2876970	0.84[CEU][hapmap]
rs34979768	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3944594	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3966427	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs463217	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4818728	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4818947	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818950	0.86[JPT][hapmap]
rs4818951	0.88[EUR][1000 genomes]
rs4818952	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4818953	0.90[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62219767	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7275203	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7275666	0.82[JPT][hapmap]
rs7276421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7280471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7509675	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs762431	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs762433	0.91[EUR][1000 genomes]
rs8126553	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8129802	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs8132337	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8134285	0.81[AMR][1000 genomes]
rs926193	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9284507	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs9306111	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9974195	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9983049	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9983892	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs9984726	0.91[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46049200-46060400	Weak transcription	Right Atrium	heart
2	chr21:46056600-46057800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46056600-46058400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:46056800-46057400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46056800-46057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:46056800-46057800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:46057000-46057800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr21:46057000-46057800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:46057000-46058000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr21:46057000-46058400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:46057000-46058400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:46057200-46057400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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