Variant report

Variant	rs62080346
Chromosome Location	chr18:9649473-9649474
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	chr18:9638107..9640165-chr18:9648278..9650768,2	K562	blood:
2	chr18:9612122..9613898-chr18:9648833..9650780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17508949	1.00[AFR][1000 genomes]
rs62078860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62080343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9639200-9663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9643800-9649800	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:9644400-9649800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:9647400-9649600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:9647400-9649600	Enhancers	HMEC	breast
6	chr18:9647600-9649600	Enhancers	NH-A	brain
7	chr18:9647600-9650000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9647800-9649600	Weak transcription	Esophagus	oesophagus
9	chr18:9648000-9650000	Enhancers	GM12878-XiMat	blood
10	chr18:9648200-9651600	Weak transcription	Placenta	Placenta
11	chr18:9648200-9653000	Weak transcription	Hela-S3	cervix
12	chr18:9648200-9653200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:9648200-9653200	Weak transcription	HUVEC	blood vessel
14	chr18:9648200-9653400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9648400-9649600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr18:9648400-9649800	Enhancers	A549	lung
17	chr18:9648600-9654800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:9648800-9650000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:9648800-9650000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:9649000-9650000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:9649000-9650400	Enhancers	NHDF-Ad	bronchial
22	chr18:9649200-9649600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:9649200-9650000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:9649200-9650000	Enhancers	NHEK	skin
25	chr18:9649400-9649600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:9649400-9650000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:9649400-9650000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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