Variant report

Variant	rs2837183
Chromosome Location	chr21:41135338-41135339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10470190	0.96[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1077588	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11701338	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12626544	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1571710	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1571712	0.81[JPT][hapmap]
rs2205205	0.90[JPT][hapmap]
rs2837148	0.91[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs2837174	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2837175	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837176	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837177	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837178	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2837187	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2837206	0.81[JPT][hapmap]
rs2837208	0.81[JPT][hapmap]
rs2837214	0.81[JPT][hapmap]
rs2837215	0.81[JPT][hapmap]
rs2837218	0.90[JPT][hapmap]
rs2837221	0.85[JPT][hapmap]
rs2837223	0.90[JPT][hapmap]
rs2837225	0.90[JPT][hapmap]
rs2837226	0.90[JPT][hapmap]
rs2837227	0.90[JPT][hapmap]
rs2837229	0.90[JPT][hapmap]
rs4337554	0.90[JPT][hapmap]
rs461583	0.81[JPT][hapmap]
rs4816652	0.95[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4816653	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818088	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4818092	0.81[JPT][hapmap]
rs4818094	0.81[JPT][hapmap]
rs6517566	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7278733	0.90[JPT][hapmap]
rs731010	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs731592	0.90[JPT][hapmap]
rs760285	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs9305679	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs981653	0.81[JPT][hapmap]
rs9983659	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2837183	FSCN1	trans	parietal	SCAN
rs2837183	MORC3	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41104200-41138400	Weak transcription	Pancreas	Pancrea
2	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41133800-41136800	Enhancers	Placenta	Placenta
4	chr21:41134800-41136000	Enhancers	Fetal Kidney	kidney
5	chr21:41134800-41136000	Enhancers	Fetal Muscle Leg	muscle
6	chr21:41134800-41136200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:41134800-41136200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:41135000-41137000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:41135200-41136000	Enhancers	Fetal Lung	lung
10	chr21:41135200-41136200	Enhancers	Ovary	ovary

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