Variant report

Variant	rs28620926
Chromosome Location	chr15:40357171-40357172
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	chr15:40355705..40358626-chr15:40451633..40453971,2	K562	blood:

Variant related genes	Relation type
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11638521	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16970286	0.92[ASN][1000 genomes]
rs16970291	0.88[ASN][1000 genomes]
rs16970319	0.80[ASN][1000 genomes]
rs28371998	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28379715	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28479712	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28534747	0.88[EUR][1000 genomes]
rs28537079	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28587891	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4923852	0.82[EUR][1000 genomes]
rs4924415	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4924416	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7181230	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183977	0.89[EUR][1000 genomes]
rs9972424	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972442	0.88[AMR][1000 genomes];0.97[EUR][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	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
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40345600-40358800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:40346000-40367400	Weak transcription	K562	blood
3	chr15:40346200-40372800	Weak transcription	Fetal Kidney	kidney
4	chr15:40347600-40361000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:40348000-40361000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40348200-40357200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:40348400-40358400	Enhancers	Fetal Thymus	thymus
8	chr15:40348400-40361000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:40348600-40361000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:40348600-40365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:40348800-40360600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:40348800-40365400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:40349000-40357400	Weak transcription	Pancreas	Pancrea
14	chr15:40349000-40358600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:40349000-40360600	Weak transcription	Fetal Heart	heart
16	chr15:40351800-40359400	Enhancers	Thymus	Thymus
17	chr15:40352000-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:40353800-40358800	Weak transcription	Fetal Lung	lung
19	chr15:40353800-40361000	Weak transcription	Fetal Intestine Small	intestine
20	chr15:40353800-40361600	Weak transcription	Gastric	stomach
21	chr15:40354200-40357200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:40354600-40357400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:40354600-40357400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40354600-40357400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:40354600-40357400	Enhancers	Hela-S3	cervix
26	chr15:40354600-40357600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:40354600-40357600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40354600-40358200	Enhancers	HSMMtube	muscle
29	chr15:40354800-40357200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:40354800-40357400	Enhancers	HSMM	muscle
31	chr15:40354800-40357600	Enhancers	NHDF-Ad	bronchial
32	chr15:40354800-40358000	Enhancers	HMEC	breast
33	chr15:40355000-40357200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr15:40355000-40357400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:40355000-40357400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:40355000-40357600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:40355000-40357800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:40355000-40359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:40355200-40357200	Enhancers	NHLF	lung
40	chr15:40355200-40357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:40355200-40359400	Enhancers	NHEK	skin
42	chr15:40355400-40357200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40355400-40357200	Enhancers	A549	lung
44	chr15:40355400-40357600	Flanking Active TSS	GM12878-XiMat	blood
45	chr15:40355400-40357600	Enhancers	Osteobl	bone
46	chr15:40355600-40357200	Enhancers	Brain Hippocampus Middle	brain
47	chr15:40355600-40357400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr15:40355600-40357400	Enhancers	Brain Angular Gyrus	brain
49	chr15:40355600-40358000	Enhancers	Primary B cells from peripheral blood	blood
50	chr15:40355600-40360400	Weak transcription	Lung	lung

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