Variant report

Variant	rs28450006
Chromosome Location	chr15:40064491-40064492
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	chr15:40064104..40066039-chr15:40073155..40075759,2	K562	blood:

Variant related genes	Relation type
ENSG00000150667	Chromatin interaction
ENSG00000261136	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1021410	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1021411	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1166718	0.81[EUR][1000 genomes]
rs1166722	0.83[EUR][1000 genomes]
rs1166723	0.83[EUR][1000 genomes]
rs11858148	0.82[ASN][1000 genomes]
rs12437837	0.82[ASN][1000 genomes]
rs12440567	0.84[ASN][1000 genomes]
rs1491624	0.96[ASN][1000 genomes]
rs1565559	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1565561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2029584	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2171312	0.84[ASN][1000 genomes]
rs2576932	0.81[EUR][1000 genomes]
rs2576933	0.81[EUR][1000 genomes]
rs2631714	0.82[EUR][1000 genomes]
rs2631717	0.83[ASN][1000 genomes]
rs2638009	0.83[EUR][1000 genomes]
rs28538495	0.84[ASN][1000 genomes]
rs28884199	0.84[ASN][1000 genomes]
rs28896916	0.84[ASN][1000 genomes]
rs34320375	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35652496	0.96[ASN][1000 genomes]
rs4924387	0.82[ASN][1000 genomes]
rs4924388	0.84[ASN][1000 genomes]
rs4924389	0.83[EUR][1000 genomes]
rs4924390	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924392	0.84[ASN][1000 genomes]
rs55639610	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59434895	0.82[ASN][1000 genomes]
rs60431166	0.82[ASN][1000 genomes]
rs61695850	0.82[ASN][1000 genomes]
rs62004808	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179742	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8026892	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40053400-40069400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:40054400-40069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:40059400-40074400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:40063000-40064600	Enhancers	Fetal Muscle Leg	muscle
5	chr15:40063200-40066600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:40063800-40064600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:40063800-40065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:40063800-40066600	Weak transcription	GM12878-XiMat	blood
9	chr15:40063800-40067800	Weak transcription	Esophagus	oesophagus
10	chr15:40063800-40068800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40063800-40068800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:40063800-40069000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:40063800-40074000	Weak transcription	Brain Angular Gyrus	brain
14	chr15:40064000-40066800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:40064000-40069400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40064000-40074000	Weak transcription	Brain Anterior Caudate	brain
17	chr15:40064200-40064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:40064200-40064600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40064200-40064600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr15:40064200-40064600	Enhancers	HSMM	muscle
21	chr15:40064200-40073800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:40064400-40064600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:40064400-40066600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:40064400-40066600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:40064400-40067000	Weak transcription	Lung	lung
26	chr15:40064400-40069400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:40064400-40069600	Weak transcription	HSMMtube	muscle
28	chr15:40064400-40069600	Weak transcription	NH-A	brain
29	chr15:40064400-40069600	Weak transcription	NHDF-Ad	bronchial
30	chr15:40064400-40074200	Weak transcription	Osteobl	bone

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