Variant report

Variant	rs56019958
Chromosome Location	chr12:29223968-29223969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29219445..29221150-chr12:29222821..29224786,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1498795	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17653960	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17704968	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1960925	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55951138	0.84[EUR][1000 genomes]
rs56014476	0.82[EUR][1000 genomes]
rs56078711	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56823591	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57629099	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58373348	0.82[EUR][1000 genomes]
rs59190473	0.82[EUR][1000 genomes]
rs60718845	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61641706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295808	0.82[EUR][1000 genomes]
rs7301103	0.82[EUR][1000 genomes]
rs7310637	0.82[EUR][1000 genomes]
rs7315447	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74076209	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74076219	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74076226	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74076482	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74076486	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74076737	0.81[EUR][1000 genomes]
rs74076740	0.82[EUR][1000 genomes]
rs7957091	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7966315	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7978880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv519276	chr12:29210121-29226080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv557914	chr12:29210121-29226080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29219400-29224200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:29220600-29224000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:29220600-29228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:29221000-29224000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:29221800-29225600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29221800-29227000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:29222400-29225800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:29222600-29226800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:29222800-29225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:29222800-29226800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:29222800-29227000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:29223000-29224200	Enhancers	Brain Germinal Matrix	brain
13	chr12:29223000-29224400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:29223200-29224600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:29223600-29224600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:29223600-29224800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:29223800-29224200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr12:29223800-29224400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:29223800-29227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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