Variant report

Variant	rs57497254
Chromosome Location	chr7:107686168-107686169
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	TCF12	chr7:107685450-107686229	SK-N-SH	brain:	n/a	n/a
2	EP300	chr7:107685543-107686183	SK-N-SH	brain:	n/a	n/a
3	ZKSCAN1	chr7:107686130-107686348	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr7:107685375-107686186	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr7:107686128-107686472	IMR90	lung:	n/a	n/a
6	E2F4	chr7:107686041-107686320	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LAMB4	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10226708	0.81[EUR][1000 genomes]
rs11974677	0.81[EUR][1000 genomes]
rs1613001	0.88[EUR][1000 genomes]
rs1624720	0.88[EUR][1000 genomes]
rs1627354	0.92[EUR][1000 genomes]
rs1636949	0.82[EUR][1000 genomes]
rs1636954	0.88[EUR][1000 genomes]
rs1636955	0.88[EUR][1000 genomes]
rs1636956	0.88[EUR][1000 genomes]
rs1636957	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732140	0.88[EUR][1000 genomes]
rs1732142	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732149	0.88[EUR][1000 genomes]
rs1732150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732156	0.88[EUR][1000 genomes]
rs2528693	0.88[EUR][1000 genomes]
rs2528694	0.88[EUR][1000 genomes]
rs2528696	0.88[EUR][1000 genomes]
rs2528697	0.83[EUR][1000 genomes]
rs2528698	0.84[EUR][1000 genomes]
rs2701044	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701045	0.85[EUR][1000 genomes]
rs34900124	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424716	0.89[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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831088	chr7:107497100-107693680	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107684800-107686400	Enhancers	Fetal Lung	lung
2	chr7:107685000-107690400	Weak transcription	HepG2	liver
3	chr7:107685400-107686600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:107685600-107686200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:107685600-107686200	Enhancers	Stomach Smooth Muscle	stomach
6	chr7:107685600-107686400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr7:107685600-107686400	Enhancers	Fetal Heart	heart
8	chr7:107685600-107686400	Enhancers	Fetal Stomach	stomach
9	chr7:107685600-107686400	Enhancers	Osteobl	bone
10	chr7:107685800-107686400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:107685800-107686400	Enhancers	NH-A	brain
12	chr7:107685800-107686400	Enhancers	NHDF-Ad	bronchial
13	chr7:107685800-107686600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:107685800-107686600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:107685800-107686600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:107686000-107686200	Enhancers	Fetal Kidney	kidney
17	chr7:107686000-107686400	Enhancers	Adipose Nuclei	Adipose
18	chr7:107686000-107691200	Weak transcription	Colon Smooth Muscle	Colon

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