Variant report

Variant	rs57527340
Chromosome Location	chr7:18940228-18940229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:18940171-18940426	SH-SY5Y	brain:	n/a	chr7:18940354-18940363
2	KAP1	chr7:18940055-18940548	HEK293	kidney:	n/a	n/a
3	EP300	chr7:18940138-18940481	SK-N-SH_RA	brain:	n/a	chr7:18940203-18940213
4	GATA3	chr7:18940088-18940865	SK-N-SH	brain:	n/a	chr7:18940354-18940363
5	POLR2A	chr7:18940099-18940244	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000226522	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16872139	1.00[AMR][1000 genomes]
rs17140166	1.00[AMR][1000 genomes]
rs17140220	1.00[AMR][1000 genomes]
rs60383654	1.00[AMR][1000 genomes]
rs61141393	1.00[AMR][1000 genomes]
rs73320004	1.00[AMR][1000 genomes]
rs73320006	1.00[AMR][1000 genomes]
rs73320021	1.00[AMR][1000 genomes]
rs73320029	1.00[AMR][1000 genomes]
rs73320031	1.00[AMR][1000 genomes]
rs73320042	1.00[AMR][1000 genomes]
rs73320054	1.00[AMR][1000 genomes]
rs7806036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2756248	chr7:18911960-18977760	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1030062	chr7:18915874-18943409	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887815	chr7:18931219-18958942	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv887816	chr7:18935310-18959138	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:18936600-18940400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:18936600-18941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:18936600-18941600	Weak transcription	NHEK	skin
5	chr7:18936600-18942800	Weak transcription	HMEC	breast
6	chr7:18939400-18942000	Enhancers	Osteobl	bone
7	chr7:18939400-18942400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:18939600-18943600	Enhancers	NHDF-Ad	bronchial
9	chr7:18939800-18943400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:18940000-18940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:18940000-18940400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:18940000-18940400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:18940000-18940400	Enhancers	HSMM	muscle
14	chr7:18940000-18940600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:18940000-18940600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:18940000-18940600	Enhancers	Aorta	Aorta
17	chr7:18940000-18940600	Enhancers	HSMMtube	muscle
18	chr7:18940000-18942000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:18940000-18943400	Enhancers	Adipose Nuclei	Adipose
20	chr7:18940200-18940600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:18940200-18940600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:18940200-18941600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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