Variant report

Variant	rs61054567
Chromosome Location	chr3:28787433-28787434
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12490385	1.00[EUR][1000 genomes]
rs1353925	1.00[EUR][1000 genomes]
rs58906264	1.00[EUR][1000 genomes]
rs6763693	1.00[EUR][1000 genomes]
rs9825652	1.00[AMR][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001920	chr3:28711075-28788920	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv876651	chr3:28774258-28823156	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv590011	chr3:28780713-29044437	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28784600-28788400	Enhancers	Fetal Lung	lung
2	chr3:28785000-28788000	Enhancers	NHEK	skin
3	chr3:28785200-28787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:28785400-28787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:28785400-28788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:28785400-28788000	Enhancers	Hela-S3	cervix
7	chr3:28785400-28788200	Enhancers	HUVEC	blood vessel
8	chr3:28785600-28788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:28785800-28788800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:28785800-28789000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:28786000-28788200	Enhancers	Fetal Heart	heart
12	chr3:28786200-28787800	Weak transcription	Lung	lung
13	chr3:28786200-28788600	Weak transcription	Left Ventricle	heart
14	chr3:28786400-28788200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:28786600-28790200	Weak transcription	Psoas Muscle	Psoas
16	chr3:28786800-28788000	Enhancers	Brain Hippocampus Middle	brain
17	chr3:28787000-28787600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:28787000-28787600	Enhancers	HMEC	breast
19	chr3:28787000-28788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:28787000-28788000	Enhancers	NH-A	brain
21	chr3:28787400-28787600	Enhancers	Fetal Stomach	stomach
22	chr3:28787400-28787600	Flanking Active TSS	HSMM	muscle
23	chr3:28787400-28787800	Active TSS	HSMMtube	muscle
24	chr3:28787400-28788000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:28787400-28788000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:28787400-28788000	Enhancers	Brain Angular Gyrus	brain
27	chr3:28787400-28788000	Enhancers	Brain Anterior Caudate	brain
28	chr3:28787400-28788000	Enhancers	Brain Substantia Nigra	brain
29	chr3:28787400-28788000	Enhancers	Esophagus	oesophagus
30	chr3:28787400-28788000	Enhancers	Fetal Brain Male	brain
31	chr3:28787400-28788000	Enhancers	Ovary	ovary
32	chr3:28787400-28788000	Enhancers	NHDF-Ad	bronchial
33	chr3:28787400-28788600	Enhancers	Fetal Muscle Leg	muscle

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