Variant report

Variant	rs2838514
Chromosome Location	chr21:45608337-45608338
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
2	chr21:45590816..45593183-chr21:45606288..45608423,2	K562	blood:
3	chr21:45604879..45610592-chr21:45658595..45664052,16	MCF-7	breast:
4	chr21:45607137..45608941-chr21:45615370..45617109,2	K562	blood:
5	chr21:45589478..45591671-chr21:45607631..45610004,2	MCF-7	breast:
6	chr21:45553470..45554986-chr21:45608150..45609834,2	MCF-7	breast:
7	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:
8	chr21:45605212..45608621-chr21:45608817..45614047,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160221	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2838523	1.00[ASN][1000 genomes]
rs378993	1.00[ASN][1000 genomes]
rs41277544	1.00[ASN][1000 genomes]
rs41277552	1.00[ASN][1000 genomes]
rs58940818	1.00[ASN][1000 genomes]
rs59738122	1.00[ASN][1000 genomes]
rs59829171	1.00[ASN][1000 genomes]
rs62220372	1.00[ASN][1000 genomes]
rs62220373	1.00[ASN][1000 genomes]
rs62220410	1.00[ASN][1000 genomes]
rs6518349	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276055	1.00[ASN][1000 genomes]
rs7277916	1.00[ASN][1000 genomes]
rs73381309	1.00[ASN][1000 genomes]
rs73381322	1.00[ASN][1000 genomes]
rs73381331	1.00[ASN][1000 genomes]
rs8126899	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45602800-45612200	Weak transcription	Right Atrium	heart
2	chr21:45605200-45610800	Weak transcription	Right Ventricle	heart
3	chr21:45605400-45610800	Weak transcription	Pancreas	Pancrea
4	chr21:45605400-45610800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:45605400-45612200	Weak transcription	Left Ventricle	heart
6	chr21:45605400-45613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:45605600-45610600	Weak transcription	Brain Substantia Nigra	brain
8	chr21:45605800-45611400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:45606000-45610600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:45606000-45610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:45606000-45613800	Weak transcription	Stomach Mucosa	stomach
12	chr21:45606200-45610800	Weak transcription	Spleen	Spleen
13	chr21:45606400-45610800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:45606600-45610600	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:45606800-45610800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45607200-45608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:45607200-45609800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:45608200-45608400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr21:45608200-45608600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:45608200-45608600	Enhancers	Esophagus	oesophagus
21	chr21:45608200-45608600	Enhancers	Gastric	stomach
22	chr21:45608200-45608600	Enhancers	Ovary	ovary
23	chr21:45608200-45608800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:45608200-45608800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:45608200-45608800	Bivalent Enhancer	HepG2	liver

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