Variant report

Variant	rs2839296
Chromosome Location	chr21:47920197-47920198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr21:47919983-47920772	HepG2	liver:	n/a	chr21:47920586-47920606 chr21:47920542-47920562 chr21:47920056-47920067 chr21:47920051-47920067 chr21:47920054-47920068 chr21:47920546-47920555 chr21:47920055-47920066 chr21:47920545-47920559 chr21:47920544-47920560 chr21:47920588-47920604 chr21:47920053-47920062 chr21:47920546-47920556 chr21:47920198-47920209 chr21:47920056-47920067 chr21:47920589-47920603
2	RCOR1	chr21:47920050-47920268	K562	blood:	n/a	n/a
3	BACH1	chr21:47920167-47920996	K562	blood:	n/a	n/a
4	ZNF143	chr21:47920116-47920938	K562	blood:	n/a	n/a
5	FOS	chr21:47919851-47921158	HUVEC	blood vessel:	n/a	chr21:47920547-47920557 chr21:47920595-47920607 chr21:47920549-47920556 chr21:47920548-47920556 chr21:47920548-47920556 chr21:47920546-47920557 chr21:47920050-47920062 chr21:47920546-47920558
6	MAFK	chr21:47919981-47921153	K562	blood:	n/a	chr21:47920586-47920606 chr21:47920542-47920562 chr21:47920056-47920067 chr21:47920051-47920067 chr21:47920054-47920068 chr21:47920546-47920555 chr21:47920055-47920066 chr21:47920545-47920559 chr21:47920544-47920560 chr21:47920588-47920604 chr21:47921004-47921019 chr21:47920053-47920062 chr21:47920546-47920556 chr21:47920198-47920209 chr21:47920056-47920067 chr21:47920589-47920603
7	MAFF	chr21:47920036-47921039	K562	blood:	n/a	chr21:47920583-47920601 chr21:47920050-47920068 chr21:47920589-47920603 chr21:47920539-47920557 chr21:47920545-47920559
8	MAFK	chr21:47919809-47921064	GM12878	blood:	n/a	chr21:47920586-47920606 chr21:47920542-47920562 chr21:47920056-47920067 chr21:47919959-47919974 chr21:47920051-47920067 chr21:47920054-47920068 chr21:47920546-47920555 chr21:47920055-47920066 chr21:47920545-47920559 chr21:47920544-47920560 chr21:47920588-47920604 chr21:47921004-47921019 chr21:47920053-47920062 chr21:47920546-47920556 chr21:47920198-47920209 chr21:47920056-47920067 chr21:47920589-47920603
9	MAFK	chr21:47919975-47920939	IMR90	lung:	n/a	chr21:47920586-47920606 chr21:47920542-47920562 chr21:47920056-47920067 chr21:47920051-47920067 chr21:47920054-47920068 chr21:47920546-47920555 chr21:47920055-47920066 chr21:47920545-47920559 chr21:47920544-47920560 chr21:47920588-47920604 chr21:47920053-47920062 chr21:47920546-47920556 chr21:47920198-47920209 chr21:47920056-47920067 chr21:47920589-47920603

No.	Distal block	Cell Line	Cell type
1	chr21:47906802..47909660-chr21:47919429..47921777,2	K562	blood:
2	chr21:47877189..47880495-chr21:47917559..47921814,4	K562	blood:
3	chr21:47877783..47881429-chr21:47917559..47920514,3	K562	blood:
4	chr21:47744351..47747187-chr21:47918632..47920661,2	K562	blood:
5	chr21:47877597..47879563-chr21:47918674..47920551,2	MCF-7	breast:
6	chr21:47919811..47922466-chr21:47933322..47936721,3	K562	blood:

Variant related genes	Relation type
DIP2A	TF binding region
ENSG00000160299	Chromatin interaction
ENSG00000160305	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1029262	0.95[ASN][1000 genomes]
rs11089066	0.86[ASN][1000 genomes]
rs11089068	0.89[ASN][1000 genomes]
rs11089069	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11089071	0.95[ASN][1000 genomes]
rs11089072	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089077	0.81[ASN][1000 genomes]
rs1123540	0.89[ASN][1000 genomes]
rs12185864	0.86[ASN][1000 genomes]
rs12482279	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12483081	0.95[ASN][1000 genomes]
rs12483421	0.89[ASN][1000 genomes]
rs12626200	0.89[ASN][1000 genomes]
rs12626961	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627331	0.91[ASN][1000 genomes]
rs12627653	0.95[ASN][1000 genomes]
rs13047052	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1977907	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012217	0.81[ASN][1000 genomes]
rs2032111	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051190	0.87[ASN][1000 genomes]
rs2070426	0.87[ASN][1000 genomes]
rs2070434	0.93[ASN][1000 genomes]
rs2073374	0.86[ASN][1000 genomes]
rs2073376	0.85[ASN][1000 genomes]
rs2073377	0.87[ASN][1000 genomes]
rs2073381	0.89[ASN][1000 genomes]
rs2249970	0.89[ASN][1000 genomes]
rs2300563	0.86[ASN][1000 genomes]
rs2330594	0.95[ASN][1000 genomes]
rs2839257	0.85[ASN][1000 genomes]
rs2839261	0.86[ASN][1000 genomes]
rs2839265	0.89[ASN][1000 genomes]
rs2839268	0.89[ASN][1000 genomes]
rs2839270	0.87[ASN][1000 genomes]
rs2839275	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2839276	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2839280	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2839284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2839285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2839297	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2839299	0.93[ASN][1000 genomes]
rs2839313	0.96[ASN][1000 genomes]
rs2839317	0.95[ASN][1000 genomes]
rs34590323	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34736293	0.88[ASN][1000 genomes]
rs3747010	0.96[ASN][1000 genomes]
rs4267585	0.95[ASN][1000 genomes]
rs4431027	0.95[ASN][1000 genomes]
rs4819256	0.86[ASN][1000 genomes]
rs59500178	0.82[ASN][1000 genomes]
rs59977673	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62224256	0.83[ASN][1000 genomes]
rs62224257	0.89[ASN][1000 genomes]
rs62224258	0.89[ASN][1000 genomes]
rs62225682	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7279991	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132022	0.89[ASN][1000 genomes]
rs9789884	0.95[ASN][1000 genomes]
rs9975345	0.84[ASN][1000 genomes]
rs9984247	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
4	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
5	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
9	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	83 gene(s)	inside rSNPs	n/a
10	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
12	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
14	nsv933061	chr21:47746204-48031515	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
15	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1056321	chr21:47835146-47973412	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
17	nsv917208	chr21:47836346-47988603	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
18	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
19	nsv459312	chr21:47856106-47985655	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
20	nsv587998	chr21:47856106-47985655	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
21	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
22	nsv1056152	chr21:47875370-47979259	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
23	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
24	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
25	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised 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	39 gene(s)	inside rSNPs	n/a
26	nsv1057566	chr21:47915583-48029698	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47880400-47931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47892800-47920200	Weak transcription	Small Intestine	intestine
3	chr21:47904200-47920200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:47904200-47920200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:47904200-47931200	Weak transcription	Psoas Muscle	Psoas
6	chr21:47904600-47920200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:47904800-47920200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr21:47905000-47920600	Strong transcription	Placenta	Placenta
9	chr21:47905800-47920200	Strong transcription	Liver	Liver
10	chr21:47906200-47920400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr21:47907800-47921000	Strong transcription	Dnd41	blood
12	chr21:47908600-47920200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:47908800-47920200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:47909200-47921000	Strong transcription	Fetal Intestine Large	intestine
15	chr21:47909600-47932400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:47910200-47920200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:47910400-47929000	Weak transcription	Fetal Heart	heart
18	chr21:47911400-47926400	Strong transcription	Fetal Muscle Leg	muscle
19	chr21:47911400-47933600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr21:47912000-47920600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr21:47912600-47926800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:47913000-47935000	Weak transcription	Right Atrium	heart
23	chr21:47913400-47931400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:47914000-47920200	Strong transcription	Adipose Nuclei	Adipose
25	chr21:47915200-47933400	Strong transcription	Fetal Stomach	stomach
26	chr21:47915800-47920200	Strong transcription	Brain Germinal Matrix	brain
27	chr21:47916000-47920200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:47916000-47920800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:47916000-47922000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:47916400-47920800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr21:47916600-47920400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr21:47916600-47920400	Strong transcription	Left Ventricle	heart
33	chr21:47916600-47920600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr21:47916800-47920200	Strong transcription	Aorta	Aorta
35	chr21:47916800-47920200	Strong transcription	Brain Anterior Caudate	brain
36	chr21:47916800-47920200	Strong transcription	Spleen	Spleen
37	chr21:47916800-47920400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr21:47916800-47920400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:47916800-47920400	Strong transcription	Ovary	ovary
40	chr21:47916800-47920800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:47916800-47920800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:47916800-47921000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr21:47916800-47926000	Strong transcription	Fetal Brain Female	brain
44	chr21:47916800-47929200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:47917000-47920200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr21:47917000-47920200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr21:47917000-47920400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:47917000-47920600	Strong transcription	Colonic Mucosa	Colon
49	chr21:47917000-47922200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr21:47917600-47920200	Strong transcription	Osteobl	bone

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