Variant report

Variant	rs2238713
Chromosome Location	chr21:45552633-45552634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45551256-45555474	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:45551223-45554970	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr21:45551345-45553894	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr21:45551900-45553949	U87	brain:	n/a	n/a
5	POLR2A	chr21:45550978-45552667	K562	blood:	n/a	n/a
6	POLR2A	chr21:45552614-45553927	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:45551099-45554025	MCF-7	breast:	n/a	n/a
8	PML	chr21:45552172-45554249	GM12878	blood:	n/a	chr21:45554125-45554133
9	ESRRA	chr21:45552105-45554057	GM12878	blood:	n/a	chr21:45552376-45552389
10	POLR2A	chr21:45550947-45553871	GM12892	blood:	n/a	n/a
11	MXI1	chr21:45552029-45555144	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr21:45551021-45554171	K562	blood:	n/a	n/a
13	POLR2A	chr21:45550936-45556141	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr21:45550983-45552705	GM12892	blood:	n/a	n/a
15	POLR2A	chr21:45551549-45552786	GM12892	blood:	n/a	n/a
16	POLR2A	chr21:45550524-45555784	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:45551403-45552705	K562	blood:	n/a	n/a
18	POLR2A	chr21:45550463-45553791	K562	blood:	n/a	n/a
19	POLR2A	chr21:45550977-45554195	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr21:45551006-45552761	K562	blood:	n/a	n/a
21	POLR2A	chr21:45550191-45554297	K562	blood:	n/a	n/a
22	POLR2A	chr21:45551963-45552651	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr21:45550292-45554259	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45551285..45553710-chr21:45659921..45662248,2	MCF-7	breast:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
4	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
5	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
6	chr21:45228525..45230832-chr21:45550134..45553031,3	MCF-7	breast:
7	chr21:45551956..45555178-chr21:45594619..45596938,3	MCF-7	breast:
8	chr21:45550802..45552649-chr21:45562821..45564566,2	MCF-7	breast:
9	chr17:76355468..76356420-chr21:45552086..45553008,2	Hela-S3	cervix:
10	chr21:45431683..45433635-chr21:45552005..45554023,2	K562	blood:
11	chr21:45552255..45555608-chr21:45751000..45753544,3	K562	blood:
12	chr21:45551674..45553396-chr21:45739259..45741235,2	MCF-7	breast:
13	chr21:45552120..45555319-chr21:45756917..45761085,4	MCF-7	breast:
14	chr21:45551466..45554089-chr21:45749737..45751999,2	MCF-7	breast:
15	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
16	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
17	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:

No data

Variant related genes	Relation type
C21orf33	TF binding region
ENSG00000160226	Chromatin interaction
ENSG00000255902	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000237604	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000184557	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000184441	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1051981	0.84[EUR][1000 genomes]
rs1059813	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854489	0.84[EUR][1000 genomes]
rs11089111	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089115	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1131999	0.86[ASN][1000 genomes]
rs11700840	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11700919	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626672	0.85[EUR][1000 genomes]
rs12627239	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13046297	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13048551	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13050630	0.84[ASN][1000 genomes]
rs1858665	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020945	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020946	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020947	0.84[EUR][1000 genomes]
rs2020948	0.82[ASN][1000 genomes]
rs2039272	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2051260	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071135	0.86[EUR][1000 genomes]
rs2071142	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071143	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071146	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071147	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071152	0.87[ASN][1000 genomes]
rs2073432	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073434	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073435	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156428	0.84[ASN][1000 genomes]
rs2187313	0.88[EUR][1000 genomes]
rs2242950	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242953	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242954	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243348	0.87[ASN][1000 genomes]
rs2243999	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245372	0.85[ASN][1000 genomes]
rs2245380	0.84[ASN][1000 genomes]
rs2245386	0.85[ASN][1000 genomes]
rs2245462	0.85[ASN][1000 genomes]
rs2245759	0.87[ASN][1000 genomes]
rs2251267	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255716	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2255828	0.80[ASN][1000 genomes]
rs2255922	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276530	0.89[EUR][1000 genomes]
rs2277806	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299815	0.84[EUR][1000 genomes]
rs2299818	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299820	0.85[ASN][1000 genomes]
rs2329706	0.83[ASN][1000 genomes]
rs2329707	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516519	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516521	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2776368	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838466	0.84[EUR][1000 genomes]
rs2838471	0.89[EUR][1000 genomes]
rs2838473	0.84[EUR][1000 genomes]
rs2838474	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838476	0.82[ASN][1000 genomes]
rs2838477	0.82[ASN][1000 genomes]
rs2838478	0.82[ASN][1000 genomes]
rs2838480	0.82[ASN][1000 genomes]
rs2838481	0.84[ASN][1000 genomes]
rs2838482	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838483	0.84[ASN][1000 genomes]
rs2838485	0.85[ASN][1000 genomes]
rs2838486	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838488	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838489	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838490	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838491	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838492	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838493	0.86[EUR][1000 genomes]
rs2838494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838496	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838498	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838499	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838500	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838502	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838503	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2850150	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850153	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850154	0.86[EUR][1000 genomes]
rs2850155	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850156	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850157	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855651	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2855652	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2855653	0.86[EUR][1000 genomes]
rs28859288	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35538274	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35610725	0.84[ASN][1000 genomes]
rs3788104	0.82[EUR][1000 genomes]
rs3788108	0.85[EUR][1000 genomes]
rs4818881	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818882	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4819370	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819372	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819373	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819376	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819377	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819378	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819379	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819381	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819383	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56384549	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7277269	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279319	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7280581	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281270	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281291	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7281768	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7281778	0.84[EUR][1000 genomes]
rs7282324	0.86[EUR][1000 genomes]
rs7282643	0.84[EUR][1000 genomes]
rs7283870	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs756553	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs756554	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756555	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7676	0.85[EUR][1000 genomes]
rs8126564	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8130647	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132918	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8133422	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8133610	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885872	0.86[EUR][1000 genomes]
rs915878	0.87[ASN][1000 genomes]
rs9306172	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9306174	0.85[ASN][1000 genomes]
rs9680179	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs968713	0.86[EUR][1000 genomes]
rs968714	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974315	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9975708	0.85[ASN][1000 genomes]
rs9975978	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9977564	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9978130	0.84[EUR][1000 genomes]
rs9979882	0.82[EUR][1000 genomes]
rs9981257	0.81[ASN][1000 genomes]
rs9981485	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
17	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
19	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription 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	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2238713	PWP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45528200-45552800	Weak transcription	Right Atrium	heart
2	chr21:45532600-45552800	Weak transcription	Fetal Kidney	kidney
3	chr21:45539200-45553000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:45541000-45552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:45541200-45552800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:45549200-45553000	Weak transcription	Stomach Mucosa	stomach
7	chr21:45550200-45552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr21:45550800-45552800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:45551400-45552800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45551400-45552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:45551400-45552800	Weak transcription	Ovary	ovary
12	chr21:45551400-45553000	Weak transcription	Aorta	Aorta
13	chr21:45551600-45553000	Weak transcription	Esophagus	oesophagus
14	chr21:45551800-45552800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:45551800-45553000	Flanking Active TSS	Dnd41	blood
16	chr21:45552000-45552800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr21:45552000-45552800	Weak transcription	Left Ventricle	heart
18	chr21:45552000-45552800	Weak transcription	Lung	lung
19	chr21:45552000-45553000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr21:45552000-45554000	Active TSS	Fetal Brain Female	brain
21	chr21:45552000-45554400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:45552200-45552800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45552200-45552800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:45552200-45552800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr21:45552200-45552800	Enhancers	Primary B cells from peripheral blood	blood
26	chr21:45552200-45552800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45552200-45552800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:45552200-45552800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:45552200-45552800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr21:45552200-45552800	Enhancers	Fetal Muscle Leg	muscle
31	chr21:45552200-45552800	Enhancers	Placenta	Placenta
32	chr21:45552200-45552800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr21:45552200-45552800	Flanking Active TSS	Hela-S3	cervix
34	chr21:45552200-45553000	Weak transcription	Gastric	stomach
35	chr21:45552200-45554000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:45552200-45554200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:45552200-45554400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr21:45552200-45554400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:45552200-45554400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr21:45552200-45554400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr21:45552200-45555400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:45552400-45552800	Enhancers	Primary B cells from cord blood	blood
43	chr21:45552400-45552800	Enhancers	Primary hematopoietic stem cells	blood
44	chr21:45552400-45552800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:45552400-45552800	Flanking Active TSS	Liver	Liver
46	chr21:45552400-45552800	Enhancers	Brain Substantia Nigra	brain
47	chr21:45552400-45552800	Weak transcription	Fetal Stomach	stomach
48	chr21:45552400-45552800	Enhancers	Pancreas	Pancrea
49	chr21:45552400-45552800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr21:45552400-45553000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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