Variant report

Variant	rs153942
Chromosome Location	chr12:21765268-21765269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21632280..21634944-chr12:21765213..21766977,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11836605	1.00[AMR][1000 genomes]
rs1650272	1.00[AMR][1000 genomes]
rs1650311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677080	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677081	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677090	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677113	0.80[AFR][1000 genomes]
rs1677124	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677129	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677134	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1677140	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs255450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs255454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs61320912	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]
rs73262391	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs759933	0.80[AFR][1000 genomes];1.00[AMR][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	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	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv898897	chr12:21680363-21781141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1037727	chr12:21689358-21772274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898898	chr12:21713402-21781141	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1051012	chr12:21730236-21781141	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21758000-21769000	Weak transcription	Pancreas	Pancrea
2	chr12:21760800-21766800	Weak transcription	Liver	Liver
3	chr12:21761400-21765400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:21761400-21765600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:21761400-21766800	Weak transcription	Left Ventricle	heart
6	chr12:21761600-21766200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:21761600-21766200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:21761600-21767000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:21761800-21765600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:21761800-21766400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:21762000-21765400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:21762000-21765400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:21763400-21765400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:21763800-21767400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:21764600-21767400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:21764800-21766800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:21764800-21767400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:21765000-21765400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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