Variant report

Variant	rs73134232
Chromosome Location	chr20:52298449-52298450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52293804..52295870-chr20:52297078..52299402,2	K562	blood:
2	chr20:52296882..52298732-chr20:52301296..52303888,2	K562	blood:
3	chr17:57915331..57918284-chr20:52296594..52299022,2	MCF-7	breast:
4	chr11:62608889..62610568-chr20:52296380..52298644,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs6022657	0.95[EUR][1000 genomes]
rs73134208	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73134212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73134213	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73134224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73134226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73134230	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73134236	0.87[AMR][1000 genomes]
rs73151671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73151680	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr20:52293400-52299600	Enhancers	Placenta	Placenta
2	chr20:52295400-52298600	Weak transcription	GM12878-XiMat	blood
3	chr20:52295400-52302200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:52296200-52298600	Weak transcription	Primary B cells from cord blood	blood
5	chr20:52296600-52301800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr20:52296800-52298800	Enhancers	HepG2	liver
7	chr20:52296800-52301400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr20:52296800-52301400	Weak transcription	K562	blood
9	chr20:52296800-52301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:52296800-52301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:52296800-52302200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr20:52297000-52301600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr20:52297000-52301800	Weak transcription	Primary T cells from cord blood	blood
14	chr20:52297000-52301800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr20:52297000-52301800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:52297400-52301600	Weak transcription	Thymus	Thymus
17	chr20:52297400-52301600	Weak transcription	Dnd41	blood
18	chr20:52297600-52302200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:52297600-52305400	Weak transcription	A549	lung
20	chr20:52297800-52299400	Enhancers	Fetal Thymus	thymus
21	chr20:52298000-52298800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr20:52298200-52298800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr20:52298200-52299200	Enhancers	Primary B cells from peripheral blood	blood
24	chr20:52298400-52298600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr20:52298400-52298600	Enhancers	Fetal Kidney	kidney

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