Variant report

Variant	rs28501512
Chromosome Location	chr21:46676702-46676703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46675525..46679390-chr21:46682642..46685767,4	MCF-7	breast:
2	chr21:46649193..46651949-chr21:46675292..46677661,2	K562	blood:
3	chr21:46493414..46496701-chr21:46675649..46680419,4	K562	blood:
4	chr21:46671702..46674861-chr21:46675485..46679113,5	K562	blood:
5	chr21:46645128..46646956-chr21:46675006..46677594,2	MCF-7	breast:
6	chr21:46675036..46676875-chr21:46680682..46682536,2	MCF-7	breast:
7	chr21:46675057..46677884-chr21:47243864..47245535,2	MCF-7	breast:
8	chr21:46675852..46678920-chr21:46700237..46703123,3	MCF-7	breast:
9	chr21:46586605..46588915-chr21:46675140..46677229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1006779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10470245	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10470247	0.84[EUR][1000 genomes]
rs10470258	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1056099	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1056100	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1056101	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075788	0.93[EUR][1000 genomes]
rs11088985	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11558445	0.88[ASN][1000 genomes]
rs11909411	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626188	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1304487	0.88[EUR][1000 genomes]
rs1304488	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13047104	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13047598	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13048789	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13049049	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13049337	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13050359	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13052312	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13052344	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1999333	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1999334	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1999335	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236443	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236444	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236445	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236446	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236450	0.84[ASN][1000 genomes]
rs2246697	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255761	0.87[ASN][1000 genomes]
rs2255766	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255774	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2256000	0.87[ASN][1000 genomes]
rs2330011	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2330012	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2330102	0.83[ASN][1000 genomes]
rs2330103	0.82[ASN][1000 genomes]
rs2838825	0.88[EUR][1000 genomes]
rs2838826	0.86[EUR][1000 genomes]
rs2838827	0.87[EUR][1000 genomes]
rs2838828	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838829	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838831	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838832	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838833	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838834	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838837	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838839	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838840	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2838842	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838843	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838844	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838845	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838848	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838849	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2838850	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838852	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838854	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838855	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838857	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838858	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838859	0.87[ASN][1000 genomes]
rs2838860	0.88[ASN][1000 genomes]
rs2838861	0.82[ASN][1000 genomes]
rs2838862	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2838864	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838865	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838866	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838867	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28442024	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28576202	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28616694	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28622522	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28676615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877018	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2877019	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2877020	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34101026	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34818688	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34956478	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35064782	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35560973	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35871601	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35997212	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3673	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818768	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819038	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819039	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819040	0.89[EUR][1000 genomes]
rs4819041	0.89[EUR][1000 genomes]
rs4819042	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819043	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819044	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4819045	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819046	0.93[EUR][1000 genomes]
rs4819047	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4819048	0.88[EUR][1000 genomes]
rs4819049	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4819050	0.82[ASN][1000 genomes]
rs4819051	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58644915	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7275382	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7275468	0.88[EUR][1000 genomes]
rs7275870	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7275874	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7276103	0.91[EUR][1000 genomes]
rs7276591	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7276828	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279011	0.87[EUR][1000 genomes]
rs7279136	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279182	0.85[EUR][1000 genomes]
rs7281263	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7283915	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8126930	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8127834	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8128636	0.81[ASN][1000 genomes]
rs8130285	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8131143	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8131476	0.89[EUR][1000 genomes]
rs8132135	0.82[ASN][1000 genomes]
rs8132387	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8133045	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8133153	0.85[EUR][1000 genomes]
rs8134011	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8134084	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8134392	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs875620	0.86[ASN][1000 genomes]
rs875621	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs914214	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs914215	0.83[ASN][1000 genomes]
rs914218	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9753962	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9753963	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9753987	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9754134	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9974628	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9974891	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9977178	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9977686	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9979545	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9980676	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs28501512	LOC642852	Cis_1M	lymphoblastoid	RTeQTL
rs28501512	C21orf86	N/A	lymphoblastoid	RTeQTL
rs28501512	C21orf86	Cis_1M	lymphoblastoid	RTeQTL
rs28501512	LINC00315	cis	Artery Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46669000-46683400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:46669200-46677000	Weak transcription	Left Ventricle	heart
3	chr21:46669200-46706600	Weak transcription	Right Atrium	heart
4	chr21:46671200-46683000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr21:46673400-46681600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:46673800-46683400	Weak transcription	HSMM	muscle
7	chr21:46674400-46678200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46674600-46677600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46674600-46678000	Enhancers	Fetal Thymus	thymus
10	chr21:46674600-46678400	Enhancers	Primary hematopoietic stem cells	blood
11	chr21:46674800-46677000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:46675000-46677400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr21:46675000-46677800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:46675000-46678000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr21:46675200-46676800	Enhancers	Spleen	Spleen
16	chr21:46675200-46677200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:46675200-46677600	Enhancers	Primary B cells from peripheral blood	blood
18	chr21:46675200-46677600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:46675200-46678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:46675400-46677600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr21:46675400-46677800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46675600-46677400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr21:46675600-46682400	Weak transcription	Pancreas	Pancrea
24	chr21:46675600-46686200	Weak transcription	GM12878-XiMat	blood
25	chr21:46675800-46679000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr21:46676000-46677400	Enhancers	Fetal Muscle Leg	muscle
27	chr21:46676000-46677600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:46676000-46678400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:46676000-46706200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr21:46676200-46676800	Bivalent Enhancer	Right Ventricle	heart
31	chr21:46676200-46677600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:46676200-46678000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:46676200-46678200	Bivalent Enhancer	Placenta	Placenta
34	chr21:46676200-46678600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr21:46676400-46676800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:46676400-46677400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:46676400-46677400	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr21:46676400-46677600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr21:46676400-46677600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr21:46676400-46677600	Enhancers	HSMMtube	muscle
41	chr21:46676400-46677800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:46676400-46678000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:46676400-46678000	Enhancers	Fetal Heart	heart
44	chr21:46676400-46678600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:46676600-46676800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:46676600-46677000	Enhancers	Primary B cells from cord blood	blood
47	chr21:46676600-46677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr21:46676600-46677200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr21:46676600-46677200	Flanking Active TSS	K562	blood
50	chr21:46676600-46677400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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