Variant report

Variant	rs2246602
Chromosome Location	chr21:45064296-45064297
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44928875..44931756-chr21:45061674..45064639,3	MCF-7	breast:
2	chr21:44936296..44939345-chr21:45062332..45065604,3	MCF-7	breast:
3	chr21:44589709..44591969-chr21:45063947..45066903,2	MCF-7	breast:
4	chr21:45040425..45043053-chr21:45064104..45066805,2	K562	blood:
5	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
6	chr21:44596809..44598374-chr21:45064063..45066950,2	K562	blood:
7	chr21:44934396..44939488-chr21:45063795..45068503,7	MCF-7	breast:
8	chr21:44920448..44924375-chr21:45064080..45067016,3	MCF-7	breast:
9	chr21:44844308..44847193-chr21:45063897..45069393,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160202	Chromatin interaction
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1003280	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs1073522	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11089093	0.84[EUR][1000 genomes]
rs1122873	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11700909	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs11701518	0.87[CHB][hapmap]
rs11702544	0.86[EUR][1000 genomes]
rs11909064	0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs12626757	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12627667	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1378079	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1378080	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs141521	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs1454648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454650	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1454651	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1584917	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1584918	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1598206	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs162343	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs162344	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs162345	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs162366	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs162367	0.86[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs162368	0.84[ASN][1000 genomes]
rs162369	0.83[ASN][1000 genomes]
rs162371	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs162372	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs162374	0.81[ASN][1000 genomes]
rs162375	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs162376	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs162377	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs162378	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs162380	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs162381	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs162388	1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs162389	0.84[ASN][1000 genomes]
rs162390	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs162391	0.80[ASN][1000 genomes]
rs162393	0.82[ASN][1000 genomes]
rs162394	0.85[ASN][1000 genomes]
rs162395	0.82[ASN][1000 genomes]
rs162396	0.82[ASN][1000 genomes]
rs162398	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs162399	0.88[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs162400	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs162402	0.86[ASN][1000 genomes]
rs162403	0.86[ASN][1000 genomes]
rs162404	0.84[ASN][1000 genomes]
rs167930	0.85[ASN][1000 genomes]
rs1836856	0.87[CHB][hapmap]
rs189094	0.83[ASN][1000 genomes]
rs2051407	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070533	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs2155722	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs2236665	0.86[EUR][1000 genomes]
rs2236666	0.87[JPT][hapmap]
rs2236667	0.80[EUR][1000 genomes]
rs2250773	0.81[CEU][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs2251253	0.81[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs2282526	0.98[EUR][1000 genomes]
rs229357	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298561	0.87[JPT][hapmap]
rs2298562	0.80[EUR][1000 genomes]
rs230640	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs230642	0.86[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs230645	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs230646	0.81[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs2329442	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2329443	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329593	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs2838316	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838317	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838318	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs2838319	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838320	0.88[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2838321	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838322	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838323	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]
rs2838324	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838325	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs2838326	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs2838328	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs2838329	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838330	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs2838331	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838336	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838338	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838339	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838340	0.89[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs2838341	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838342	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838343	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838344	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2838345	0.86[EUR][1000 genomes]
rs2838348	0.87[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs2838350	0.87[JPT][hapmap]
rs2838351	0.87[JPT][hapmap]
rs2838353	0.81[JPT][hapmap]
rs2838354	0.81[JPT][hapmap]
rs28840140	0.90[ASN][1000 genomes]
rs35110281	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3819161	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs389278	0.86[CHB][hapmap]
rs4818843	0.83[ASN][1000 genomes]
rs4818850	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[ASN][1000 genomes]
rs4818856	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818858	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs4818859	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4818860	0.81[JPT][hapmap]
rs4819212	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs4819219	0.87[CHB][hapmap]
rs4819264	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4819270	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4819285	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4819288	0.81[JPT][hapmap]
rs4819289	0.80[CEU][hapmap];0.81[JPT][hapmap]
rs4819290	0.83[EUR][1000 genomes]
rs4819291	0.81[CEU][hapmap]
rs4819295	0.81[JPT][hapmap]
rs4819296	0.81[JPT][hapmap]
rs58451308	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6518301	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6518302	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6518309	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6518310	0.87[JPT][hapmap]
rs718470	0.82[YRI][hapmap]
rs7275705	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276215	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7276633	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7277539	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279958	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7279959	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7279968	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7282122	0.81[CEU][hapmap];0.87[JPT][hapmap]
rs7282933	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7283362	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs762400	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs8129601	0.81[JPT][hapmap]
rs8131005	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs8131020	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs8133523	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs86138	0.83[ASN][1000 genomes]
rs86139	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs91424	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9306159	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306160	0.81[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs969060	0.98[EUR][1000 genomes]
rs9974710	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9976441	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs9976443	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9977074	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9977076	0.86[EUR][1000 genomes]
rs9978811	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9980185	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981291	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9981790	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9982727	0.80[EUR][1000 genomes]
rs9983763	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9984002	0.85[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2246602	DNMT3L	cis	cerebellum	SCAN
rs2246602	HSF2BP	cis	lymphoblastoid	seeQTL
rs2246602	NCRNA00175	cis	parietal	SCAN
rs2246602	HSF2BP	cis	Lymphoblastoid	GTEx
rs2246602	HSF2BP	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45052200-45065200	Weak transcription	Primary T cells from cord blood	blood
2	chr21:45053200-45065200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:45058800-45065600	Weak transcription	Right Atrium	heart
4	chr21:45060200-45064400	Weak transcription	NHDF-Ad	bronchial
5	chr21:45060200-45064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:45060200-45064600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:45060400-45064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:45060400-45064600	Weak transcription	Placenta	Placenta
9	chr21:45060400-45064600	Weak transcription	Small Intestine	intestine
10	chr21:45060400-45064600	Weak transcription	HMEC	breast
11	chr21:45060400-45065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:45060400-45065000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr21:45060400-45065200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr21:45060400-45065200	Weak transcription	Colonic Mucosa	Colon
15	chr21:45060400-45065200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:45060400-45065200	Weak transcription	Fetal Intestine Large	intestine
17	chr21:45060400-45065200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:45060400-45065200	Weak transcription	NHLF	lung
19	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
20	chr21:45060600-45064400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:45060800-45064400	Weak transcription	HepG2	liver
22	chr21:45061000-45064400	Weak transcription	Hela-S3	cervix
23	chr21:45061400-45065600	Weak transcription	Stomach Mucosa	stomach
24	chr21:45062600-45064400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:45063200-45065600	Enhancers	Fetal Brain Female	brain
26	chr21:45063400-45065200	Weak transcription	Fetal Intestine Small	intestine
27	chr21:45063400-45066200	Enhancers	Fetal Brain Male	brain
28	chr21:45063400-45066400	Weak transcription	Fetal Kidney	kidney
29	chr21:45063400-45066600	Enhancers	HSMM	muscle
30	chr21:45063800-45066600	Enhancers	NHEK	skin
31	chr21:45064000-45064400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:45064000-45064400	Enhancers	Osteobl	bone
33	chr21:45064000-45065600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:45064000-45066600	Enhancers	Fetal Lung	lung
35	chr21:45064200-45064400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:45064200-45064400	Enhancers	Fetal Stomach	stomach
37	chr21:45064200-45064400	Flanking Active TSS	HSMMtube	muscle
38	chr21:45064200-45065000	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:45064200-45065200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:45064200-45065800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr21:45064200-45066200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:45064200-45066400	Flanking Active TSS	A549	lung
43	chr21:45064200-45066600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:45064200-45066600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:45064200-45066600	Enhancers	NH-A	brain

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