Variant report

Variant	rs59967762
Chromosome Location	chr12:47984630-47984631
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	chr12:47978595..47981359-chr12:47984602..47986611,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168131	1.00[AMR][1000 genomes]
rs12304012	1.00[AMR][1000 genomes]
rs12314192	1.00[AMR][1000 genomes]
rs12315085	1.00[AMR][1000 genomes]
rs12315249	1.00[AMR][1000 genomes]
rs17122029	1.00[AMR][1000 genomes]
rs4522258	1.00[AMR][1000 genomes]
rs7312433	1.00[AMR][1000 genomes]
rs74084592	1.00[AMR][1000 genomes]
rs74085940	0.97[AFR][1000 genomes]
rs74085959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086002	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv899056	chr12:47940764-48012390	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558788	chr12:47945797-48012390	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899057	chr12:47947551-48012390	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47973800-47985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:47978000-47986000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:47981000-47986000	Enhancers	Rectal Smooth Muscle	rectum
4	chr12:47981600-47985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:47981600-47985400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:47981800-47984800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:47982000-47984800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:47982400-47985400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:47982800-47985200	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:47983200-47985400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:47983200-47986000	Enhancers	Fetal Kidney	kidney
12	chr12:47984200-47986000	Enhancers	NHDF-Ad	bronchial
13	chr12:47984400-47985400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:47984600-47985000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:47984600-47985200	Enhancers	Brain Substantia Nigra	brain
16	chr12:47984600-47985800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:47984600-47986000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:47984600-47986000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:47984600-47986000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:47984600-47986200	Enhancers	Fetal Lung	lung
21	chr12:47984600-47986400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:47984600-47986800	Enhancers	Brain Hippocampus Middle	brain

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