Variant report

Variant	rs2416294
Chromosome Location	chr5:112022320-112022321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
2	chr5:112018915..112020508-chr5:112020831..112023084,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17134865	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34950096	1.00[AFR][1000 genomes]
rs4987110	1.00[AFR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112016400-112022600	Enhancers	NHDF-Ad	bronchial
2	chr5:112018800-112024200	Weak transcription	K562	blood
3	chr5:112019600-112022600	Enhancers	Fetal Heart	heart
4	chr5:112019600-112022600	Enhancers	NHLF	lung
5	chr5:112020200-112022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:112020400-112024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112020600-112023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:112020600-112024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:112020800-112022400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112020800-112022400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:112020800-112022600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:112020800-112022600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:112020800-112025000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:112021000-112022400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:112021000-112023400	Enhancers	HSMMtube	muscle
16	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:112021200-112022600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:112021200-112023000	Weak transcription	Brain Germinal Matrix	brain
20	chr5:112021600-112022400	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:112021600-112023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:112021800-112030600	Weak transcription	Osteobl	bone
23	chr5:112022000-112022600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:112022000-112023400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:112022000-112023400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:112022200-112022400	Enhancers	Primary B cells from cord blood	blood
27	chr5:112022200-112022600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:112022200-112022600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:112022200-112023200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:112022200-112025200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:112022200-112026400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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