Variant report

Variant	rs73939854
Chromosome Location	chr18:9430862-9430863
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	chr18:9427685..9431643-chr18:9473022..9476726,4	K562	blood:

Variant related genes	Relation type
ENSG00000273335	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60060452	0.93[AFR][1000 genomes]
rs73939850	0.93[AFR][1000 genomes]
rs73939851	0.93[AFR][1000 genomes]
rs73939856	0.86[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9428600-9436200	Weak transcription	Right Atrium	heart
2	chr18:9429400-9432800	Weak transcription	Fetal Stomach	stomach
3	chr18:9429400-9433200	Weak transcription	Fetal Brain Male	brain
4	chr18:9429400-9433200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr18:9429400-9433400	Weak transcription	HSMMtube	muscle
6	chr18:9429400-9434200	Weak transcription	Lung	lung
7	chr18:9429600-9433400	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:9429600-9433600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:9429800-9431400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9430000-9433000	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:9430000-9433400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:9430000-9433400	Weak transcription	Fetal Kidney	kidney
13	chr18:9430000-9433600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:9430000-9433600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:9430000-9434200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:9430000-9434200	Weak transcription	Brain Germinal Matrix	brain
17	chr18:9430200-9433200	Weak transcription	Brain Anterior Caudate	brain
18	chr18:9430200-9433200	Weak transcription	Fetal Lung	lung
19	chr18:9430200-9433400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:9430200-9433600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:9430200-9433600	Weak transcription	Brain Substantia Nigra	brain
22	chr18:9430200-9433600	Weak transcription	NHDF-Ad	bronchial
23	chr18:9430200-9434000	Weak transcription	Brain Hippocampus Middle	brain
24	chr18:9430200-9434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:9430600-9431200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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