Variant report

Variant	rs73262391
Chromosome Location	chr12:21828090-21828091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21806249..21813630-chr12:21821662..21832670,17	K562	blood:
2	chr12:21823503..21828094-chr12:21828640..21833868,6	K562	blood:

Variant related genes	Relation type
ENSG00000111716	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11836605	1.00[AMR][1000 genomes]
rs1283796	1.00[AMR][1000 genomes]
rs1283803	1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs153942	1.00[AMR][1000 genomes]
rs1650272	1.00[AMR][1000 genomes]
rs1650311	1.00[AMR][1000 genomes]
rs1677075	1.00[AMR][1000 genomes]
rs1677080	1.00[AMR][1000 genomes]
rs1677081	1.00[AMR][1000 genomes]
rs1677090	1.00[AMR][1000 genomes]
rs1677124	1.00[AMR][1000 genomes]
rs1677129	1.00[AMR][1000 genomes]
rs1677134	1.00[AMR][1000 genomes]
rs1677140	1.00[AMR][1000 genomes]
rs2544443	1.00[AMR][1000 genomes]
rs255450	1.00[AMR][1000 genomes]
rs255454	1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs61320912	1.00[AMR][1000 genomes]
rs704199	1.00[AMR][1000 genomes]
rs704200	1.00[AMR][1000 genomes]
rs704201	1.00[AMR][1000 genomes]
rs704204	1.00[AMR][1000 genomes]
rs704207	1.00[AMR][1000 genomes]
rs704213	1.00[AMR][1000 genomes]
rs704214	1.00[AMR][1000 genomes]
rs704216	1.00[AMR][1000 genomes]
rs704218	1.00[AMR][1000 genomes]
rs73249205	1.00[AMR][1000 genomes]
rs73258133	1.00[AMR][1000 genomes]
rs73260142	1.00[AMR][1000 genomes]
rs73260149	1.00[AMR][1000 genomes]
rs73262354	1.00[AMR][1000 genomes]
rs73262383	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs759933	1.00[AMR][1000 genomes]
rs829067	1.00[AMR][1000 genomes]
rs829071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21827200-21829000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:21827600-21829200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:21827600-21829800	Enhancers	Primary T cells from cord blood	blood
4	chr12:21827600-21830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:21827600-21840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:21827800-21828200	Weak transcription	A549	lung
7	chr12:21827800-21829200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:21827800-21829400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:21827800-21829400	Enhancers	Fetal Kidney	kidney
10	chr12:21828000-21828600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:21828000-21830200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:21828000-21833800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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