Variant report

Variant	rs57867248
Chromosome Location	chr3:133590384-133590385
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	chr3:133579667..133587185-chr3:133589338..133592435,6	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41295782	1.00[AMR][1000 genomes]
rs61099606	1.00[AMR][1000 genomes]
rs8177219	1.00[AMR][1000 genomes]
rs8177243	1.00[AMR][1000 genomes]
rs8177263	1.00[AMR][1000 genomes]
rs8177266	1.00[AMR][1000 genomes]
rs8177268	1.00[AMR][1000 genomes]
rs8177275	1.00[AMR][1000 genomes]
rs8177276	1.00[AMR][1000 genomes]
rs8177280	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133573800-133591400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:133574200-133591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:133579800-133591200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:133580800-133591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:133581600-133592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:133584800-133591600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:133586800-133592000	Enhancers	Brain Angular Gyrus	brain
8	chr3:133587800-133591400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:133588200-133591600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:133588400-133590600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:133588400-133591400	Weak transcription	Fetal Brain Male	brain
12	chr3:133588400-133591600	Weak transcription	Left Ventricle	heart
13	chr3:133588400-133591800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:133588400-133591800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:133588600-133590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:133588600-133590800	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:133588600-133591800	Weak transcription	Fetal Brain Female	brain
18	chr3:133588800-133590400	Weak transcription	Right Atrium	heart
19	chr3:133588800-133590600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:133588800-133594400	Weak transcription	Spleen	Spleen
21	chr3:133588800-133595000	Weak transcription	Brain Substantia Nigra	brain
22	chr3:133589400-133592200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:133589800-133592400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:133590000-133590600	Strong transcription	Brain Germinal Matrix	brain
25	chr3:133590000-133592400	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:133590200-133590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:133590200-133591400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:133590200-133591600	Enhancers	Brain Anterior Caudate	brain

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