Variant report

Variant	rs2056619
Chromosome Location	chr7:12674641-12674642
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	chr7:12668895..12671473-chr7:12673326..12676048,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10244231	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12113631	0.82[EUR][1000 genomes]
rs12669094	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17166244	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17527572	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2056618	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2056620	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6979260	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs731257	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7797479	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663600-12677800	Weak transcription	Fetal Kidney	kidney
2	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:12664000-12675400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:12664000-12675400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:12664000-12677600	Weak transcription	Stomach Mucosa	stomach
6	chr7:12664000-12677800	Weak transcription	K562	blood
7	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:12665800-12675600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:12667000-12675600	Weak transcription	Esophagus	oesophagus
10	chr7:12668200-12675400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:12669000-12675400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:12669400-12680000	Weak transcription	Placenta	Placenta
13	chr7:12669800-12677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:12673600-12675400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:12673600-12675400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:12673800-12675200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:12673800-12675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:12674000-12680400	Weak transcription	Fetal Thymus	thymus
19	chr7:12674600-12675400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:12674600-12675400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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