Variant report

Variant	rs17360333
Chromosome Location	chr4:120585414-120585415
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	chr4:120583446..120585876-chr4:120986631..120988328,2	K562	blood:

Variant related genes	Relation type
ENSG00000250938	Chromatin interaction
ENSG00000164109	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10013852	0.90[EUR][1000 genomes]
rs10021469	0.90[EUR][1000 genomes]
rs10434030	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10434031	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10434032	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10518333	0.83[EUR][1000 genomes]
rs17007472	0.83[EUR][1000 genomes]
rs17051276	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17357002	0.83[EUR][1000 genomes]
rs17359764	0.90[EUR][1000 genomes]
rs17359910	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2389872	0.90[EUR][1000 genomes]
rs2389876	0.90[EUR][1000 genomes]
rs2389877	0.90[EUR][1000 genomes]
rs2389878	0.90[EUR][1000 genomes]
rs2389884	0.90[EUR][1000 genomes]
rs2953290	0.90[EUR][1000 genomes]
rs4146266	0.90[EUR][1000 genomes]
rs4833621	0.90[EUR][1000 genomes]
rs58613543	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58735454	0.83[EUR][1000 genomes]
rs6534145	0.90[EUR][1000 genomes]
rs6534148	0.84[EUR][1000 genomes]
rs6831062	0.90[EUR][1000 genomes]
rs72922580	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72922588	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72922598	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72924343	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 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	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120578800-120588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:120583600-120587800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:120584400-120585800	Enhancers	Liver	Liver
6	chr4:120584400-120585800	Active TSS	Stomach Smooth Muscle	stomach
7	chr4:120584400-120586000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:120584400-120586000	Active TSS	Aorta	Aorta
9	chr4:120584600-120585600	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:120584600-120585600	Flanking Active TSS	Osteobl	bone
11	chr4:120584600-120585800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:120584600-120585800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:120584600-120585800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr4:120584600-120586000	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr4:120584800-120585800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:120585000-120585600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:120585000-120585600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:120585000-120585800	Enhancers	Fetal Lung	lung
19	chr4:120585000-120586000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:120585200-120585600	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr4:120585200-120585600	Flanking Active TSS	NHLF	lung
22	chr4:120585200-120585800	Flanking Active TSS	GM12878-XiMat	blood
23	chr4:120585200-120587200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:120585200-120587400	Weak transcription	Fetal Stomach	stomach
25	chr4:120585200-120587600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:120585200-120587800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:120585400-120585600	Weak transcription	Small Intestine	intestine
28	chr4:120585400-120585800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:120585400-120586000	Active TSS	NHDF-Ad	bronchial
30	chr4:120585400-120586000	Enhancers	NHEK	skin
31	chr4:120585400-120588000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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