Variant report

Variant	rs72745583
Chromosome Location	chr15:58003168-58003169
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	chr15:58001236..58004282-chr15:58017419..58020628,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11854253	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854731	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857147	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11858659	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16977648	0.91[EUR][1000 genomes]
rs28421709	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7181032	0.80[EUR][1000 genomes]
rs7181215	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7181993	0.80[EUR][1000 genomes]
rs7182316	0.80[EUR][1000 genomes]
rs72745565	0.84[EUR][1000 genomes]
rs72745568	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745576	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745594	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72747204	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8034567	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57999800-58008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:57999800-58014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:57999800-58022400	Weak transcription	Esophagus	oesophagus
4	chr15:58000000-58004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:58000000-58008200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:58000200-58004600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:58000200-58015000	Weak transcription	Stomach Mucosa	stomach
8	chr15:58000400-58004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:58000600-58003200	Enhancers	Fetal Heart	heart
10	chr15:58000800-58003200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:58000800-58007000	Strong transcription	HSMM	muscle
12	chr15:58000800-58011400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:58000800-58012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:58000800-58012800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:58001000-58006800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr15:58001000-58007800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr15:58001000-58008600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:58001200-58003400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:58001200-58006800	Strong transcription	Fetal Stomach	stomach
20	chr15:58001200-58006800	Strong transcription	NHDF-Ad	bronchial
21	chr15:58001200-58007000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr15:58001200-58007000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:58001200-58007000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr15:58001200-58007600	Strong transcription	Osteobl	bone
25	chr15:58001200-58007800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:58001200-58007800	Strong transcription	A549	lung
27	chr15:58001200-58010200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:58001400-58003200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:58001400-58003200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr15:58001400-58003800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:58001400-58005400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:58001400-58006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:58001400-58006800	Strong transcription	Brain Angular Gyrus	brain
34	chr15:58001400-58006800	Strong transcription	NHLF	lung
35	chr15:58001400-58007000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:58001400-58007000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:58001400-58007400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:58001400-58007600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:58001400-58007600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr15:58001400-58007600	Strong transcription	HMEC	breast
41	chr15:58001400-58007800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:58001400-58007800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:58001400-58007800	Strong transcription	Brain Anterior Caudate	brain
44	chr15:58001400-58008000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:58001400-58008000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr15:58001400-58008000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:58001400-58008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:58001400-58012800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr15:58001400-58013000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:58001600-58005400	Strong transcription	Brain Germinal Matrix	brain

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