Variant report

Variant	rs2246697
Chromosome Location	chr21:46689999-46690000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:46689925-46690674	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46689820..46691425-chr21:46707957..46710383,2	K562	blood:
2	chr21:46689925..46691815-chr21:46705952..46709457,3	K562	blood:

Variant related genes	Relation type
POFUT2	TF binding region
ENSG00000215447	Chromatin interaction
ENSG00000186866	Chromatin interaction

Extended variants
information (count: 191 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1006779	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10470245	0.88[EUR][1000 genomes]
rs10470247	0.82[EUR][1000 genomes]
rs10470258	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1056099	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1056100	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1056101	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1075788	0.91[EUR][1000 genomes]
rs11088985	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11558445	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11909411	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12069	0.85[JPT][hapmap]
rs12626188	0.91[EUR][1000 genomes]
rs12627165	0.81[JPT][hapmap]
rs1304487	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1304488	0.88[EUR][1000 genomes]
rs13047104	0.91[EUR][1000 genomes]
rs13047598	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13048789	0.89[EUR][1000 genomes]
rs13049049	0.89[EUR][1000 genomes]
rs13049337	0.90[EUR][1000 genomes]
rs13050359	0.91[EUR][1000 genomes]
rs13052312	0.89[EUR][1000 genomes]
rs13052344	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13052356	0.87[CEU][hapmap]
rs1999333	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1999334	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1999335	0.91[EUR][1000 genomes]
rs2236443	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236444	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236445	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236446	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236450	0.89[ASN][1000 genomes]
rs2255761	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2255766	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2256000	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2297284	0.87[CEU][hapmap]
rs2297285	0.87[CEU][hapmap]
rs2330011	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2330012	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2330102	0.93[ASN][1000 genomes]
rs2330103	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2838825	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs2838826	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2838827	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2838828	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2838829	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838830	0.87[CEU][hapmap]
rs2838831	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838832	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838834	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838837	0.90[EUR][1000 genomes]
rs2838839	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2838840	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs2838842	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs2838843	0.92[EUR][1000 genomes]
rs2838844	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[EUR][1000 genomes]
rs2838845	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[EUR][1000 genomes]
rs2838847	0.87[CEU][hapmap]
rs2838848	0.91[EUR][1000 genomes]
rs2838849	0.91[EUR][1000 genomes]
rs2838850	0.90[EUR][1000 genomes]
rs2838852	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838859	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2838860	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2838861	0.82[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2838862	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2838864	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838865	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838866	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838867	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838868	0.82[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28442024	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28501512	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28576202	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28616694	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28622522	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28676615	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2877018	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2877019	0.88[EUR][1000 genomes]
rs2877020	0.88[EUR][1000 genomes]
rs34101026	0.89[EUR][1000 genomes]
rs34818688	0.91[EUR][1000 genomes]
rs34956478	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35064782	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35560973	0.87[EUR][1000 genomes]
rs35776291	0.82[ASN][1000 genomes]
rs35871601	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35997212	0.89[EUR][1000 genomes]
rs3673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3746980	0.87[CEU][hapmap]
rs4818768	0.89[EUR][1000 genomes]
rs4819038	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4819039	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4819040	0.87[EUR][1000 genomes]
rs4819041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4819042	0.89[EUR][1000 genomes]
rs4819043	0.89[EUR][1000 genomes]
rs4819044	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4819045	0.89[EUR][1000 genomes]
rs4819046	0.91[EUR][1000 genomes]
rs4819047	0.91[EUR][1000 genomes]
rs4819048	0.86[EUR][1000 genomes]
rs4819049	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4819050	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4819051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819053	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs58644915	0.90[EUR][1000 genomes]
rs6518223	0.81[JPT][hapmap]
rs7275382	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275468	0.86[EUR][1000 genomes]
rs7275870	0.91[EUR][1000 genomes]
rs7275874	0.91[EUR][1000 genomes]
rs7276103	0.89[EUR][1000 genomes]
rs7276591	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7276828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7279011	0.86[EUR][1000 genomes]
rs7279136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7279182	0.83[EUR][1000 genomes]
rs7281263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283915	0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs733737	0.87[CEU][hapmap]
rs733738	0.86[CEU][hapmap]
rs733739	0.87[CEU][hapmap]
rs8126930	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs8127834	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8128636	0.91[ASN][1000 genomes]
rs8130285	0.91[EUR][1000 genomes]
rs8131143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs8131476	0.87[EUR][1000 genomes]
rs8132135	0.92[ASN][1000 genomes]
rs8132387	0.88[EUR][1000 genomes]
rs8133045	0.87[EUR][1000 genomes]
rs8133153	0.83[EUR][1000 genomes]
rs8133697	0.86[JPT][hapmap]
rs8134011	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8134084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134392	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs875620	0.85[ASN][1000 genomes]
rs875621	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs914214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs914215	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs914218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9753962	0.89[EUR][1000 genomes]
rs9753963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs9753987	0.89[EUR][1000 genomes]
rs9754134	0.89[EUR][1000 genomes]
rs9974628	0.91[EUR][1000 genomes]
rs9974891	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9976074	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9977178	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs9977686	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979545	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9980676	0.91[EUR][1000 genomes]
rs9984901	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
19	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
20	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
21	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
22	nsv914003	chr21:46670874-46695039	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv914004	chr21:46670874-46736694	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
24	nsv914005	chr21:46670874-46756700	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
25	nsv914006	chr21:46670874-46788299	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
26	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
27	nsv914007	chr21:46684517-46780249	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
28	nsv914008	chr21:46684517-46792424	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
29	nsv914009	chr21:46684517-46908355	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
30	nsv1057661	chr21:46687476-46961041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2246697	C21orf86	N/A	lymphoblastoid	RTeQTL
rs2246697	LINC00315	cis	Artery Tibial	GTEx
rs2246697	C21orf86	Cis_1M	lymphoblastoid	RTeQTL
rs2246697	LOC642852	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46669200-46706600	Weak transcription	Right Atrium	heart
2	chr21:46676000-46706200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:46680600-46691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:46680600-46700200	Weak transcription	Psoas Muscle	Psoas
5	chr21:46681000-46691800	Weak transcription	K562	blood
6	chr21:46681400-46690200	Weak transcription	HUVEC	blood vessel
7	chr21:46682600-46697200	Weak transcription	Stomach Mucosa	stomach
8	chr21:46685600-46690400	Weak transcription	Hela-S3	cervix
9	chr21:46687400-46690000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:46687400-46698000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:46687600-46691400	Weak transcription	Fetal Brain Male	brain
12	chr21:46687600-46696600	Weak transcription	Esophagus	oesophagus
13	chr21:46687800-46690000	Weak transcription	NHEK	skin
14	chr21:46687800-46693600	Weak transcription	NHDF-Ad	bronchial
15	chr21:46687800-46694400	Weak transcription	Fetal Heart	heart
16	chr21:46687800-46694800	Weak transcription	Small Intestine	intestine
17	chr21:46687800-46706600	Weak transcription	HMEC	breast
18	chr21:46688000-46690000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:46688000-46690200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:46689400-46690600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:46689400-46690800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:46689400-46691200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:46689400-46691400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:46689400-46691600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr21:46689400-46691800	Strong transcription	Fetal Kidney	kidney
26	chr21:46689400-46692600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:46689400-46692600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:46689400-46695200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:46689400-46695600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:46689400-46704800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:46689400-46706200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr21:46689600-46690000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:46689600-46690000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:46689600-46690000	Strong transcription	Fetal Brain Female	brain
35	chr21:46689600-46690000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr21:46689600-46690200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:46689600-46690200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr21:46689600-46690200	Strong transcription	Fetal Intestine Small	intestine
39	chr21:46689600-46690400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:46689600-46690400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:46689600-46690400	Strong transcription	Fetal Muscle Leg	muscle
42	chr21:46689600-46690600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr21:46689600-46690600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:46689600-46690600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr21:46689600-46690800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr21:46689600-46690800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr21:46689600-46690800	Strong transcription	Colonic Mucosa	Colon
48	chr21:46689600-46690800	ZNF genes & repeats	Fetal Thymus	thymus
49	chr21:46689600-46690800	Strong transcription	Spleen	Spleen
50	chr21:46689600-46691000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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