Variant report

Variant	rs28620041
Chromosome Location	chr14:71679716-71679717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10130083	0.85[AFR][1000 genomes]
rs10130157	0.85[AFR][1000 genomes]
rs10139389	0.93[AFR][1000 genomes]
rs10142895	0.96[AFR][1000 genomes]
rs10220375	0.96[AFR][1000 genomes]
rs28539955	0.85[AFR][1000 genomes]
rs59046881	0.86[AFR][1000 genomes]
rs60693388	0.85[AFR][1000 genomes]
rs61522665	0.82[AFR][1000 genomes]
rs74060311	0.89[AFR][1000 genomes]
rs74060316	0.93[AFR][1000 genomes]
rs74062158	1.00[AFR][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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71674000-71680400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:71676400-71679800	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:71678800-71679800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:71678800-71679800	Enhancers	GM12878-XiMat	blood
5	chr14:71678800-71681000	Enhancers	Dnd41	blood
6	chr14:71679000-71679800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:71679000-71679800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:71679000-71679800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:71679000-71679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:71679200-71679800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:71679200-71679800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:71679200-71679800	Enhancers	NHEK	skin
13	chr14:71679400-71679800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:71679400-71679800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:71679400-71679800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:71679400-71679800	Active TSS	Brain Hippocampus Middle	brain
17	chr14:71679400-71679800	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:71679400-71679800	Enhancers	Spleen	Spleen
19	chr14:71679400-71680000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:71679400-71680000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:71679400-71680600	Active TSS	Brain Angular Gyrus	brain
22	chr14:71679400-71680800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:71679600-71679800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:71679600-71679800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:71679600-71682200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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