Variant report

Variant	rs13046297
Chromosome Location	chr21:45568896-45568897
allele	C/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45567022..45569875-chr21:45667189..45669320,3	MCF-7	breast:
2	chr21:45568433..45570363-chr21:45694165..45695701,2	MCF-7	breast:
3	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
4	chr21:45567927..45569479-chr21:45614833..45617390,2	K562	blood:
5	chr21:45567275..45569280-chr21:45626977..45629250,2	MCF-7	breast:
6	chr21:45564856..45569821-chr21:45659868..45664299,6	MCF-7	breast:
7	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
8	chr21:45568318..45571293-chr21:45707823..45709583,2	K562	blood:
9	chr21:45568363..45570049-chr21:45753057..45755793,2	K562	blood:
10	chr21:45567167..45569134-chr21:45587063..45589096,2	MCF-7	breast:
11	chr21:45564255..45569334-chr21:45585754..45591354,8	K562	blood:
12	chr21:45567094..45569672-chr21:45625935..45627743,3	MCF-7	breast:
13	chr21:45567116..45569541-chr21:45751438..45754407,2	K562	blood:
14	chr21:45565598..45568910-chr21:45683665..45687558,4	MCF-7	breast:
15	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
16	chr21:45568071..45570839-chr21:45679677..45681855,2	K562	blood:
17	chr21:45566742..45569322-chr21:45613127..45615094,2	MCF-7	breast:
18	chr21:45568616..45570755-chr21:45615083..45617675,2	K562	blood:
19	chr21:45568389..45570322-chr21:45757557..45759131,2	MCF-7	breast:
20	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
21	chr21:45565601..45570300-chr21:45658772..45665940,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141959	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1005046	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs1059813	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11089111	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11089115	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1131999	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs11700840	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11700919	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12626672	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627239	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13048551	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13049059	0.81[JPT][hapmap]
rs1858665	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2006694	0.87[EUR][1000 genomes]
rs2020945	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2020946	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2020948	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2039272	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2051260	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2071135	0.88[CEU][hapmap]
rs2071142	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071143	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071146	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071147	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2071152	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs2073432	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2073433	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2073435	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2156428	0.92[CHB][hapmap]
rs2187313	0.89[CEU][hapmap]
rs2238704	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2238707	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2238711	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2238713	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2242950	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2242953	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2242954	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243999	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2245380	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2245386	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2245462	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2245759	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2247400	0.94[CHB][hapmap]
rs2251267	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2255716	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2255828	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2255922	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2255955	0.84[CEU][hapmap]
rs2256441	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2276530	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs2277805	0.84[CEU][hapmap]
rs2277806	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs2299812	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2299815	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2299818	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299820	0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2329707	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516519	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2516521	0.90[CEU][hapmap];0.94[CHB][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2776368	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2838466	0.81[EUR][1000 genomes]
rs2838468	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2838469	0.84[CEU][hapmap]
rs2838471	0.84[EUR][1000 genomes]
rs2838472	0.84[CHB][hapmap]
rs2838473	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2838476	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs2838477	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2838478	0.80[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap]
rs2838482	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2838483	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2838485	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2838486	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2838488	0.95[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838489	0.94[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838490	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838491	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838492	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838493	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838494	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838496	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838498	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838499	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838500	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838502	0.94[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838503	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2850150	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2850155	0.89[EUR][1000 genomes]
rs2850156	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2850157	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28547944	0.85[EUR][1000 genomes]
rs2855651	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2855652	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35538274	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788097	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs3788108	0.81[EUR][1000 genomes]
rs4818881	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818882	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819366	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs4819370	0.85[EUR][1000 genomes]
rs4819372	0.84[EUR][1000 genomes]
rs4819373	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4819376	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819377	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4819378	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4819379	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4819381	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819383	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7277269	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs7279319	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7279727	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs7280558	0.90[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs7280581	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7281270	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7281291	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7281768	0.94[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7281778	0.81[EUR][1000 genomes]
rs7282324	0.90[CEU][hapmap]
rs7283870	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs729882	0.94[CHB][hapmap]
rs756553	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs756554	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs756555	1.00[CEU][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs7676	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs8126564	0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8126958	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs8130647	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8132918	0.84[EUR][1000 genomes]
rs8133422	0.81[EUR][1000 genomes]
rs8133610	0.85[EUR][1000 genomes]
rs885872	0.89[CEU][hapmap]
rs915772	0.90[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs915774	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs915878	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs9306171	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs9306172	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs9680179	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs968713	0.89[CEU][hapmap]
rs968714	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9975708	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs9977564	0.87[EUR][1000 genomes]
rs9981257	0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs9981485	0.83[EUR][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
rs13046297	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs13046297	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558200-45573000	Weak transcription	NH-A	brain
2	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
3	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:45559600-45573000	Weak transcription	HMEC	breast
5	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
8	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
9	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
10	chr21:45563800-45574800	Weak transcription	NHLF	lung
11	chr21:45564800-45570400	Weak transcription	Psoas Muscle	Psoas
12	chr21:45565000-45573200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:45565400-45573000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
15	chr21:45565600-45569600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:45565600-45573000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:45565600-45573200	Weak transcription	Colon Smooth Muscle	Colon
18	chr21:45566000-45569000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr21:45566400-45575000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:45566600-45569400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:45566800-45569400	Enhancers	GM12878-XiMat	blood
22	chr21:45567000-45569400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr21:45567200-45569000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:45567200-45569600	Enhancers	K562	blood
25	chr21:45567200-45570000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:45567200-45573000	Weak transcription	Gastric	stomach
27	chr21:45567400-45569400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:45567400-45569400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr21:45567400-45570400	Weak transcription	Ovary	ovary
30	chr21:45567400-45572800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr21:45567400-45572800	Weak transcription	Adipose Nuclei	Adipose
32	chr21:45567400-45572800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:45567400-45573000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr21:45567400-45573200	Weak transcription	Esophagus	oesophagus
35	chr21:45567400-45573200	Weak transcription	Right Atrium	heart
36	chr21:45567400-45573400	Weak transcription	Brain Angular Gyrus	brain
37	chr21:45567600-45569200	Weak transcription	Fetal Intestine Small	intestine
38	chr21:45567600-45569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr21:45567600-45570400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:45567600-45572800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr21:45567600-45572800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr21:45567600-45573000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr21:45567800-45570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:45567800-45573200	Weak transcription	Right Ventricle	heart
45	chr21:45568000-45570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:45568000-45570400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:45568000-45572400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45568000-45573000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45568000-45573000	Weak transcription	Stomach Mucosa	stomach
50	chr21:45568000-45573600	Weak transcription	Brain Anterior Caudate	brain

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