Variant report

Variant	rs16955068
Chromosome Location	chr18:9416872-9416873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9411062..9413935-chr18:9415854..9418802,3	K562	blood:
2	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
3	chr18:9407863..9410773-chr18:9414131..9417031,3	K562	blood:
4	chr18:9416793..9418933-chr18:9473674..9476367,3	MCF-7	breast:
5	chr18:9407863..9410773-chr18:9415240..9417031,3	K562	blood:

Variant related genes	Relation type
ENSG00000273335	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16955061	0.81[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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh 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
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9405000-9417000	Weak transcription	Right Atrium	heart
2	chr18:9405600-9417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:9414800-9420200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9414800-9422200	Enhancers	Fetal Muscle Leg	muscle
5	chr18:9415600-9417000	Enhancers	Fetal Lung	lung
6	chr18:9415600-9417200	Enhancers	Fetal Muscle Trunk	muscle
7	chr18:9416000-9420200	Enhancers	Fetal Stomach	stomach
8	chr18:9416200-9417000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:9416600-9417000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:9416600-9417000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:9416600-9417000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:9416600-9417000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:9416600-9417000	Enhancers	Brain Anterior Caudate	brain
14	chr18:9416600-9417000	Enhancers	Fetal Heart	heart
15	chr18:9416600-9417400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:9416600-9417400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr18:9416600-9417400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:9416600-9417600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:9416600-9417600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr18:9416600-9417600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:9416600-9417600	Enhancers	HSMM	muscle
22	chr18:9416600-9417600	Enhancers	HUVEC	blood vessel
23	chr18:9416600-9417600	Flanking Active TSS	NH-A	brain
24	chr18:9416600-9417800	Enhancers	Fetal Brain Male	brain
25	chr18:9416600-9417800	Enhancers	K562	blood
26	chr18:9416600-9418000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:9416600-9418000	Enhancers	HSMMtube	muscle
28	chr18:9416600-9419000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr18:9416600-9419000	Enhancers	NHEK	skin
30	chr18:9416800-9417000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:9416800-9417000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:9416800-9417000	Enhancers	Brain Hippocampus Middle	brain
33	chr18:9416800-9417000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr18:9416800-9417000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9416800-9417000	Flanking Active TSS	Fetal Kidney	kidney
36	chr18:9416800-9417000	Active TSS	Rectal Smooth Muscle	rectum
37	chr18:9416800-9417000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr18:9416800-9417000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr18:9416800-9417000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr18:9416800-9417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:9416800-9417400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:9416800-9417400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr18:9416800-9417400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr18:9416800-9417400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:9416800-9417400	Flanking Active TSS	Osteobl	bone
46	chr18:9416800-9417600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:9416800-9417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr18:9416800-9417600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:9416800-9417600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:9416800-9417600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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