Variant report

Variant	rs2516521
Chromosome Location	chr21:45527896-45527897
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
2	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
3	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
4	chr21:45444934..45447565-chr21:45527496..45530031,3	K562	blood:
5	chr21:45446065..45448233-chr21:45527740..45530031,2	K562	blood:
6	chr21:45526020..45528445-chr21:46493573..46495387,2	K562	blood:
7	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
8	chr21:45525933..45529754-chr21:45756924..45759975,4	MCF-7	breast:
9	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
10	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
11	chr21:45527099..45528898-chr21:45545746..45547620,2	MCF-7	breast:
12	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
13	chr21:45527693..45529600-chr21:45539778..45541804,2	MCF-7	breast:
14	chr21:45527479..45530084-chr21:45730033..45733150,3	K562	blood:
15	chr21:45527359..45530919-chr21:45716038..45721178,5	K562	blood:
16	chr21:45501440..45503025-chr21:45527582..45529145,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000241945	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 180 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1051981	0.87[EUR][1000 genomes]
rs1059813	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10854489	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11089111	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11089115	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1131999	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11700840	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11700919	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12626672	0.84[EUR][1000 genomes]
rs12627239	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13046297	0.90[CEU][hapmap];0.94[CHB][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13047030	0.81[EUR][1000 genomes]
rs13048551	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13049059	0.90[JPT][hapmap]
rs13050630	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1858665	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2020945	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2020946	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2020947	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2020948	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2039272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2051260	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071135	0.85[EUR][1000 genomes]
rs2071142	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071143	0.89[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071146	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071147	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071152	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2073432	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2073433	0.90[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073434	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073435	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2156428	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2187313	0.88[EUR][1000 genomes]
rs2238704	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2238707	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2238711	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2238713	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242950	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242953	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242954	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243348	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2243999	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245372	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2245380	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2245386	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2245462	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2247400	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2251267	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255716	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2255828	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2255922	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2255955	0.84[CEU][hapmap]
rs2256441	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2276530	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2277805	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2277806	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2299812	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2299815	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299818	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2299820	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2329706	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2329707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2776368	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838466	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2838468	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2838469	0.84[CEU][hapmap]
rs2838471	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838472	0.84[CHB][hapmap]
rs2838473	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838474	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838476	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2838477	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2838478	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2838480	0.86[AFR][1000 genomes]
rs2838481	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2838482	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838483	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2838485	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2838486	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838488	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838490	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838491	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838492	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838493	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2838494	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838496	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838498	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838499	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838502	0.84[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838503	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850150	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2850153	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2850154	0.90[EUR][1000 genomes]
rs2850155	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850156	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850157	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2855651	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2855652	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2855653	0.85[EUR][1000 genomes]
rs28859288	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35538274	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35610725	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs3788104	0.86[EUR][1000 genomes]
rs3788108	0.83[EUR][1000 genomes]
rs4818881	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4818882	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819366	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4819370	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819372	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819373	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819376	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819377	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819378	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819379	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819381	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819383	0.90[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56384549	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7277269	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7279319	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7280558	1.00[CHB][hapmap]
rs7280581	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281270	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7281291	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7281768	0.94[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7281778	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7282324	0.86[EUR][1000 genomes]
rs7282643	0.85[EUR][1000 genomes]
rs7283870	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs729882	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs756553	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs756554	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs756555	0.89[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes]
rs7676	0.83[EUR][1000 genomes]
rs8126564	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8126958	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs8130647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8132918	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133422	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8133610	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885872	0.85[EUR][1000 genomes]
rs915772	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs915878	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9306171	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9306172	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9306174	0.81[ASN][1000 genomes]
rs9680179	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs968713	0.85[EUR][1000 genomes]
rs968714	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974315	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9975708	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9975978	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9977564	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9978130	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9979882	0.84[EUR][1000 genomes]
rs9981257	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9981485	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3322338	chr21:45526049-45528897	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2516521	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45526400-45528000	Active TSS	Brain Anterior Caudate	brain
2	chr21:45526400-45528600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr21:45526400-45528600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr21:45526400-45528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr21:45526600-45528000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr21:45526600-45528000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr21:45526600-45528000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45526600-45528000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:45526600-45528000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:45526600-45528000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:45526600-45528000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:45526600-45528000	Active TSS	Brain Angular Gyrus	brain
13	chr21:45526600-45528000	Active TSS	Fetal Brain Female	brain
14	chr21:45526600-45528000	Active TSS	Fetal Kidney	kidney
15	chr21:45526600-45528000	Active TSS	Ovary	ovary
16	chr21:45526600-45528000	Active TSS	Pancreas	Pancrea
17	chr21:45526600-45528000	Active TSS	HSMM	muscle
18	chr21:45526600-45528000	Active TSS	NHDF-Ad	bronchial
19	chr21:45526600-45528000	Active TSS	NHEK	skin
20	chr21:45526600-45528000	Active TSS	NHLF	lung
21	chr21:45526600-45528000	Active TSS	Osteobl	bone
22	chr21:45526600-45528200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr21:45526600-45528200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:45526600-45528200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:45526600-45528200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr21:45526600-45528200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:45526600-45528200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr21:45526600-45528200	Active TSS	A549	lung
29	chr21:45526600-45528200	Active TSS	HepG2	liver
30	chr21:45526600-45528400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr21:45526600-45528400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr21:45526600-45528600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr21:45526600-45528600	Active TSS	Rectal Smooth Muscle	rectum
34	chr21:45526800-45528000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:45526800-45528000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr21:45526800-45528000	Active TSS	Aorta	Aorta
37	chr21:45526800-45528000	Active TSS	Esophagus	oesophagus
38	chr21:45526800-45528000	Active TSS	Fetal Intestine Large	intestine
39	chr21:45526800-45528000	Active TSS	Gastric	stomach
40	chr21:45526800-45528000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr21:45526800-45528000	Active TSS	Small Intestine	intestine
42	chr21:45526800-45528000	Active TSS	Stomach Mucosa	stomach
43	chr21:45526800-45528600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr21:45527000-45528000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:45527000-45528000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:45527000-45528000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:45527000-45528000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr21:45527000-45528000	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr21:45527000-45528000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr21:45527000-45528000	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links