Variant report

Variant	rs2838498
Chromosome Location	chr21:45566068-45566069
allele	G/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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45560677..45566873-chr21:45750837..45755413,8	K562	blood:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr21:45564126..45567055-chr21:45625325..45627825,3	MCF-7	breast:
4	chr21:45565749..45567363-chr21:45612252..45614777,2	MCF-7	breast:
5	chr21:45563732..45566679-chr21:45757601..45760870,4	MCF-7	breast:
6	chr21:45565070..45567545-chr21:45758154..45759861,2	K562	blood:
7	chr21:45526053..45528099-chr21:45564426..45566463,2	MCF-7	breast:
8	chr21:45564856..45569821-chr21:45659868..45664299,6	MCF-7	breast:
9	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
10	chr21:45413538..45417421-chr21:45563044..45566344,3	K562	blood:
11	chr21:45563311..45566975-chr21:45753410..45757143,4	K562	blood:
12	chr21:45561666..45566481-chr21:45577816..45581808,5	K562	blood:
13	chr21:45564186..45567033-chr21:45737929..45740729,2	K562	blood:
14	chr21:45564255..45569334-chr21:45585754..45591354,8	K562	blood:
15	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
16	chr21:45564255..45567141-chr21:45748990..45751402,3	MCF-7	breast:
17	chr21:45564263..45568124-chr21:45686122..45689149,5	K562	blood:
18	chr21:45565598..45568910-chr21:45683665..45687558,4	MCF-7	breast:
19	chr21:45553509..45556020-chr21:45565323..45568081,3	MCF-7	breast:
20	chr21:45564290..45566692-chr21:45599928..45602377,2	MCF-7	breast:
21	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
22	chr21:45565887..45566563-chr21:45687420..45688175,3	MCF-7	breast:
23	chr21:45564180..45566355-chr21:45758288..45759889,2	MCF-7	breast:
24	chr21:45564111..45566990-chr21:45591835..45594159,2	MCF-7	breast:
25	chr21:45565762..45568425-chr21:45616246..45618901,2	MCF-7	breast:
26	chr21:45564257..45567225-chr21:45749162..45751241,2	MCF-7	breast:
27	chr21:45564522..45567093-chr21:45620803..45623621,2	MCF-7	breast:
28	chr21:45565261..45567235-chr21:45752117..45754104,2	MCF-7	breast:
29	chr21:45565249..45567033-chr21:45737929..45739719,2	K562	blood:
30	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
31	chr21:45565601..45570300-chr21:45658772..45665940,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160226	Chromatin interaction
ENSG00000184441	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000255902	Chromatin interaction
ENSG00000252606	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000267913	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1051981	0.82[EUR][1000 genomes]
rs1059813	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854489	0.83[EUR][1000 genomes]
rs11089111	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089115	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1131999	0.82[ASN][1000 genomes]
rs11700840	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11700919	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12626672	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12627239	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13046297	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13048551	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13050630	0.80[ASN][1000 genomes]
rs1858665	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2006694	0.81[EUR][1000 genomes]
rs2020945	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020946	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2020947	0.83[EUR][1000 genomes]
rs2039272	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051260	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2071135	0.86[EUR][1000 genomes]
rs2071142	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071143	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071146	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071152	0.83[ASN][1000 genomes]
rs2073432	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073434	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073435	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2156428	0.80[ASN][1000 genomes]
rs2187313	0.86[EUR][1000 genomes]
rs2238713	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242950	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242953	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242954	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2243348	0.83[ASN][1000 genomes]
rs2243999	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2245372	0.82[ASN][1000 genomes]
rs2245380	0.80[ASN][1000 genomes]
rs2245386	0.82[ASN][1000 genomes]
rs2245462	0.82[ASN][1000 genomes]
rs2245759	0.83[ASN][1000 genomes]
rs2251267	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255716	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2255922	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2276530	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2277806	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299815	0.83[EUR][1000 genomes]
rs2299818	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299820	0.82[ASN][1000 genomes]
rs2329707	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516519	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516521	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2776368	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838466	0.84[EUR][1000 genomes]
rs2838471	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2838473	0.83[EUR][1000 genomes]
rs2838474	0.83[EUR][1000 genomes]
rs2838481	0.80[ASN][1000 genomes]
rs2838482	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2838483	0.80[ASN][1000 genomes]
rs2838485	0.82[ASN][1000 genomes]
rs2838486	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838488	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838489	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838490	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838491	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838492	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838493	0.89[EUR][1000 genomes]
rs2838494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838496	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838499	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838500	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838502	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838503	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2850150	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2850153	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2850154	0.85[EUR][1000 genomes]
rs2850155	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850156	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2850157	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28547944	0.81[ASN][1000 genomes]
rs2855651	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2855652	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2855653	0.86[EUR][1000 genomes]
rs28859288	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35538274	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35610725	0.80[ASN][1000 genomes]
rs3788104	0.81[EUR][1000 genomes]
rs3788108	0.88[EUR][1000 genomes]
rs4818881	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818882	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4819370	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819372	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819373	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819376	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819378	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819379	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819383	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56384549	0.83[EUR][1000 genomes]
rs7277269	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7279319	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7280581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281270	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7281291	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7281768	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7281778	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7282324	0.85[EUR][1000 genomes]
rs7282643	0.82[EUR][1000 genomes]
rs7283870	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs756553	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs756554	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs756555	0.96[EUR][1000 genomes]
rs7676	0.88[EUR][1000 genomes]
rs8126564	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8130647	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132918	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133422	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8133610	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs885872	0.86[EUR][1000 genomes]
rs915772	0.83[EUR][1000 genomes]
rs915774	0.82[EUR][1000 genomes]
rs915878	0.83[ASN][1000 genomes]
rs9306172	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9306174	0.82[ASN][1000 genomes]
rs9680179	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968713	0.86[EUR][1000 genomes]
rs968714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974315	0.83[EUR][1000 genomes]
rs9975708	0.82[ASN][1000 genomes]
rs9975978	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9977564	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9978130	0.83[EUR][1000 genomes]
rs9981485	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2838498	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2838498	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558000-45566200	Enhancers	Left Ventricle	heart
2	chr21:45558200-45573000	Weak transcription	NH-A	brain
3	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
4	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45559600-45573000	Weak transcription	HMEC	breast
6	chr21:45559800-45566800	Weak transcription	HepG2	liver
7	chr21:45559800-45567000	Weak transcription	Osteobl	bone
8	chr21:45560000-45568600	Enhancers	Primary hematopoietic stem cells	blood
9	chr21:45560200-45567200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:45560800-45568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:45561000-45566400	Weak transcription	Gastric	stomach
13	chr21:45561000-45567400	Enhancers	Esophagus	oesophagus
14	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
16	chr21:45561200-45567000	Weak transcription	Dnd41	blood
17	chr21:45561200-45567600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
19	chr21:45561400-45567400	Enhancers	Adipose Nuclei	Adipose
20	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
21	chr21:45561600-45568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:45561800-45567000	Weak transcription	Ovary	ovary
23	chr21:45561800-45567600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr21:45562200-45566400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr21:45562200-45567600	Enhancers	Duodenum Mucosa	Duodenum
26	chr21:45562400-45566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:45562600-45566800	Genic enhancers	Fetal Stomach	stomach
28	chr21:45562600-45566800	Flanking Active TSS	GM12878-XiMat	blood
29	chr21:45562800-45566200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:45562800-45566200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr21:45562800-45566200	Enhancers	Fetal Brain Male	brain
32	chr21:45562800-45566600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:45563000-45566200	Genic enhancers	Lung	lung
34	chr21:45563000-45566400	Genic enhancers	Brain Hippocampus Middle	brain
35	chr21:45563200-45566200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr21:45563400-45566200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr21:45563400-45566200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45563400-45566600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr21:45563600-45567600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr21:45563800-45574800	Weak transcription	NHLF	lung
41	chr21:45564000-45567000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr21:45564400-45567400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr21:45564400-45568400	Enhancers	Fetal Thymus	thymus
44	chr21:45564600-45566600	Strong transcription	Fetal Intestine Small	intestine
45	chr21:45564600-45567400	Enhancers	Brain Cingulate Gyrus	brain
46	chr21:45564600-45568000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr21:45564600-45568600	Enhancers	Placenta	Placenta
48	chr21:45564800-45567000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:45564800-45567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:45564800-45570400	Weak transcription	Psoas Muscle	Psoas

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