Variant report

Variant	rs1441368
Chromosome Location	chr5:112022657-112022658
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: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11241181	1.00[AMR][1000 genomes]
rs11750684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361581	1.00[AMR][1000 genomes]
rs13436450	1.00[AMR][1000 genomes]
rs1441369	1.00[AMR][1000 genomes]
rs2464806	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464812	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs369952	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs380589	1.00[AMR][1000 genomes]
rs392179	1.00[AMR][1000 genomes]
rs415045	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs464338	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs468293	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs469336	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4705617	1.00[ASW][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4705753	1.00[AMR][1000 genomes]
rs7718899	1.00[AMR][1000 genomes]
rs9326864	1.00[AMR][1000 genomes]
rs9986303	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1441368	TPBG	trans	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112018800-112024200	Weak transcription	K562	blood
2	chr5:112020400-112024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112020600-112023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112020600-112024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:112020800-112025000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:112021000-112023400	Enhancers	HSMMtube	muscle
7	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112021200-112023000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:112021600-112023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:112021800-112030600	Weak transcription	Osteobl	bone
12	chr5:112022000-112023400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:112022000-112023400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:112022200-112023200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:112022200-112025200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:112022200-112026400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:112022400-112022800	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:112022400-112023400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112022600-112022800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112022600-112022800	Enhancers	Brain Anterior Caudate	brain
21	chr5:112022600-112022800	Enhancers	Brain Hippocampus Middle	brain
22	chr5:112022600-112022800	Enhancers	Fetal Muscle Leg	muscle
23	chr5:112022600-112023400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:112022600-112023400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:112022600-112023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:112022600-112030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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