Variant report

Variant	rs2276530
Chromosome Location	chr21:45444829-45444830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45443107..45445711-chr21:45516311..45518422,2	K562	blood:
2	chr21:45443004..45445894-chr21:45525431..45527091,3	K562	blood:
3	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
4	chr21:45285715..45287395-chr21:45444497..45446106,2	K562	blood:
5	chr21:45430739..45433866-chr21:45436879..45444885,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 182 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1051981	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs1059813	0.91[EUR][1000 genomes]
rs10854489	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089111	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11089115	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs1131999	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11700840	0.85[EUR][1000 genomes]
rs11700919	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12627239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13046297	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs13047030	0.90[EUR][1000 genomes]
rs13048551	0.84[EUR][1000 genomes]
rs13049059	1.00[JPT][hapmap]
rs13050630	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1858665	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2020945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2020946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2020947	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2039272	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2051260	0.88[EUR][1000 genomes]
rs2071135	0.81[CEU][hapmap]
rs2071142	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2071143	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071147	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2073432	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2073433	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2073435	0.90[EUR][1000 genomes]
rs2156428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187313	0.83[CEU][hapmap]
rs2238704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2238705	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2238706	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2238707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2238708	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238709	0.95[ASN][1000 genomes]
rs2238710	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238712	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238713	0.89[EUR][1000 genomes]
rs2242950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2242953	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2242954	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2243348	0.86[ASN][1000 genomes]
rs2243999	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2245372	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2245386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2247400	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251267	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2255828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2255922	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2255955	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2256392	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2256441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2277805	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2277806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2299813	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2299815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299818	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2329707	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2516521	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2776368	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838466	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838467	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2838469	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2838471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838472	0.84[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838474	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838478	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2838480	0.91[ASN][1000 genomes]
rs2838481	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838490	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2838491	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838492	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838493	0.88[CEU][hapmap]
rs2838494	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838496	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs2838498	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838499	0.88[EUR][1000 genomes]
rs2838500	0.84[EUR][1000 genomes]
rs2838502	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs2838503	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs2850150	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2850153	0.80[AMR][1000 genomes]
rs2850154	0.81[EUR][1000 genomes]
rs2850155	0.91[EUR][1000 genomes]
rs2850156	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2850157	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2855651	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2855652	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28859288	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35538274	0.88[EUR][1000 genomes]
rs35610725	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3788098	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3788101	0.82[ASN][1000 genomes]
rs3788104	0.85[EUR][1000 genomes]
rs4818878	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4818881	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4818882	0.86[EUR][1000 genomes]
rs4819366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4819370	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819372	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819373	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4819377	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819378	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4819379	0.88[EUR][1000 genomes]
rs4819381	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4819383	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs56384549	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518345	0.86[JPT][hapmap]
rs7277269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7279319	0.85[EUR][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7280558	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7280581	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7281270	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7281291	0.85[EUR][1000 genomes]
rs7281768	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7281778	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7282324	0.84[CEU][hapmap]
rs7282643	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283870	0.86[EUR][1000 genomes]
rs729882	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs756553	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs756554	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs756555	0.94[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs7676	0.83[CEU][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8126754	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8126958	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8129971	1.00[ASN][1000 genomes]
rs8130647	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8132918	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8133422	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8133610	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs885872	0.83[CEU][hapmap]
rs915772	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs915774	0.85[CEU][hapmap]
rs915878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9306171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9306174	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9680179	0.87[EUR][1000 genomes]
rs968713	0.84[CEU][hapmap]
rs968714	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9974165	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9974315	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9975708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975978	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9977564	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9978130	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9979882	0.86[EUR][1000 genomes]
rs9981257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9981485	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9982663	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2276530	PWP2	cis	Muscle Skeletal	GTEx
rs2276530	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45433800-45448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:45434400-45446800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:45434800-45445000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:45434800-45447200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:45434800-45447400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr21:45435000-45450200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr21:45435200-45445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:45436800-45446800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr21:45438200-45451400	Weak transcription	Hela-S3	cervix
14	chr21:45439400-45445000	Weak transcription	Ovary	ovary
15	chr21:45440400-45446000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr21:45440600-45446800	Enhancers	Primary B cells from peripheral blood	blood
17	chr21:45440800-45451400	Weak transcription	Dnd41	blood
18	chr21:45441200-45447600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:45441600-45445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr21:45441800-45445000	Weak transcription	Colonic Mucosa	Colon
21	chr21:45441800-45445000	Enhancers	GM12878-XiMat	blood
22	chr21:45441800-45445000	Weak transcription	HepG2	liver
23	chr21:45441800-45452400	Weak transcription	Fetal Brain Female	brain
24	chr21:45442600-45445000	Enhancers	K562	blood
25	chr21:45442600-45447000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:45443200-45446800	Enhancers	Brain Anterior Caudate	brain
27	chr21:45443200-45447000	Enhancers	Brain Substantia Nigra	brain
28	chr21:45443400-45446200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:45443400-45446800	Enhancers	Brain Cingulate Gyrus	brain
30	chr21:45443600-45446400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:45443600-45447000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:45443800-45448600	Enhancers	Left Ventricle	heart
33	chr21:45444000-45445000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr21:45444000-45446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:45444000-45446200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr21:45444000-45446400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:45444000-45446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:45444000-45446400	Enhancers	Primary T cells from cord blood	blood
39	chr21:45444000-45446800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr21:45444000-45447000	Enhancers	Spleen	Spleen
41	chr21:45444000-45448400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr21:45444200-45445200	Enhancers	Small Intestine	intestine
43	chr21:45444200-45445800	Enhancers	Right Atrium	heart
44	chr21:45444200-45446000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:45444200-45446000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr21:45444200-45446000	Enhancers	HUVEC	blood vessel
47	chr21:45444200-45446200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr21:45444200-45446200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:45444200-45446200	Enhancers	Lung	lung
50	chr21:45444200-45446200	Enhancers	Sigmoid Colon	Sigmoid Colon

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