Variant report

Variant	rs62228172
Chromosome Location	chr21:45597669-45597670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45546961..45549200-chr21:45595303..45598230,2	K562	blood:
2	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
3	chr21:45597366..45599258-chr21:45659522..45661807,2	MCF-7	breast:
4	chr21:45563266..45565088-chr21:45597174..45599773,2	K562	blood:
5	chr21:45596950..45600837-chr21:45603449..45606160,3	K562	blood:
6	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
7	chr21:45572891..45575841-chr21:45596465..45598354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2838510	0.84[EUR][1000 genomes]
rs58954796	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59514931	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60750077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61648450	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228171	1.00[ASN][1000 genomes]
rs62228173	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62228182	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9980063	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45584200-45598800	Weak transcription	Ovary	ovary
2	chr21:45592000-45598000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:45593200-45601000	Weak transcription	Right Atrium	heart
4	chr21:45593400-45602200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:45593400-45605000	Weak transcription	Small Intestine	intestine
6	chr21:45593600-45604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45595800-45598000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:45595800-45598200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr21:45595800-45598400	Enhancers	Fetal Muscle Leg	muscle
10	chr21:45596000-45601400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:45596400-45597800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:45596400-45600600	Weak transcription	Right Ventricle	heart
13	chr21:45596600-45597800	Enhancers	HepG2	liver
14	chr21:45596600-45598400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr21:45596600-45599400	Weak transcription	Esophagus	oesophagus
16	chr21:45597000-45597800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr21:45597000-45598000	Weak transcription	Placenta	Placenta
18	chr21:45597200-45598400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:45597200-45599600	Weak transcription	Gastric	stomach
20	chr21:45597200-45604400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:45597400-45597800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr21:45597400-45598000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr21:45597600-45597800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:45597600-45597800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
25	chr21:45597600-45597800	Enhancers	GM12878-XiMat	blood
26	chr21:45597600-45598600	Weak transcription	Brain Hippocampus Middle	brain
27	chr21:45597600-45598800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:45597600-45599200	Weak transcription	Brain Substantia Nigra	brain

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