Variant report

Variant	rs74065306
Chromosome Location	chr12:9776593-9776594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16907843	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934974	1.00[EUR][1000 genomes]
rs2109901	1.00[EUR][1000 genomes]
rs2109902	1.00[EUR][1000 genomes]
rs2109903	1.00[EUR][1000 genomes]
rs2159780	1.00[EUR][1000 genomes]
rs2374768	1.00[EUR][1000 genomes]
rs55739026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55760671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55798034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58158418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58539496	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59193482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488028	1.00[EUR][1000 genomes]
rs74062896	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74062898	1.00[EUR][1000 genomes]
rs74062901	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9764200-9777000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9769400-9777400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:9770200-9786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9770400-9779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
7	chr12:9772400-9777600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:9772800-9776800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:9773000-9776800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:9773000-9779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:9773400-9777200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:9775200-9777600	Weak transcription	Aorta	Aorta
13	chr12:9775800-9778000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:9776200-9777000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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