Variant report

Variant	rs9976074
Chromosome Location	chr21:46655638-46655639
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1006779	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs10470258	0.94[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs1056099	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap]
rs1304487	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs13047598	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs13047688	0.90[EUR][1000 genomes]
rs13052356	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13053002	0.88[EUR][1000 genomes]
rs1999333	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs1999334	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs2236445	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap]
rs2246697	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2255774	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs2256000	0.91[CEU][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs2297284	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2297285	0.87[CEU][hapmap]
rs2297286	0.81[EUR][1000 genomes]
rs2330011	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2330012	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs2330013	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2838824	0.87[YRI][hapmap]
rs2838825	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2838826	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs2838827	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs2838828	0.91[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838829	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs2838830	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838831	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838832	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838833	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838834	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838839	0.91[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2838840	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2838842	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs2838844	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2838845	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs2838847	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs2838854	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2838855	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap]
rs2838857	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap]
rs2838858	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2838859	0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs2838860	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs2838861	0.80[CEU][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs2838862	0.91[CEU][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap]
rs2838864	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs2838865	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2838866	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2838867	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs2838868	0.82[CEU][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs28628220	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2877018	1.00[CEU][hapmap];0.87[YRI][hapmap]
rs34211339	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34886433	0.84[EUR][1000 genomes]
rs35560973	0.81[EUR][1000 genomes]
rs3673	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3746980	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs4818769	0.91[EUR][1000 genomes]
rs4819038	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs4819039	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs4819040	0.81[EUR][1000 genomes]
rs4819041	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs4819044	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs4819049	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4819051	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4819052	0.81[EUR][1000 genomes]
rs4819053	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs7275468	0.82[EUR][1000 genomes]
rs7276828	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs7279011	0.82[EUR][1000 genomes]
rs7279182	0.80[EUR][1000 genomes]
rs7283915	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs733737	0.87[CEU][hapmap]
rs733738	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs733739	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8126930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap]
rs8130866	0.89[EUR][1000 genomes]
rs8131143	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap]
rs8131476	0.80[EUR][1000 genomes]
rs8134392	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs914214	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs914215	0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs914218	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9306123	0.81[EUR][1000 genomes]
rs9753963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs9977178	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs9984901	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
8	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	51 gene(s)	inside rSNPs	diseases
11	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS 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 target site	55 gene(s)	inside rSNPs	diseases
15	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv1059805	chr21:46618210-46736943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	27 gene(s)	inside rSNPs	diseases
17	nsv913999	chr21:46636844-46765251	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
18	nsv587842	chr21:46641017-46670752	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
19	nsv914000	chr21:46647078-46765251	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
21	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9976074	C21orf86	N/A	lymphoblastoid	RTeQTL
rs9976074	LOC642852	Cis_1M	lymphoblastoid	RTeQTL
rs9976074	PCNT	cis	parietal	SCAN
rs9976074	RRP1B	cis	parietal	SCAN
rs9976074	C21orf86	Cis_1M	lymphoblastoid	RTeQTL
rs9976074	C21orf67	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46637800-46668600	Weak transcription	Right Atrium	heart
2	chr21:46643800-46664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46648800-46656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:46652800-46655800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:46654800-46656200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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