Variant report

Variant	rs4242225
Chromosome Location	chr5:167181647-167181648
allele	A/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	EP300	chr5:167181575-167182204	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr5:167181557-167182153	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr5:167181646-167182084	U87	brain:	n/a	n/a
4	FOXP2	chr5:167181630-167182191	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr5:167181328-167181659	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr5:167181308-167182161	SK-N-MC	brain:	n/a	n/a
7	TEAD4	chr5:167181616-167182037	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr5:167181643-167182156	U87	brain:	n/a	n/a

Variant related genes	Relation type
TENM2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10064302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064701	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068821	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072896	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454966	1.00[ASN][1000 genomes]
rs11948139	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357813	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357822	1.00[ASN][1000 genomes]
rs13436693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069188	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862875	1.00[ASN][1000 genomes]
rs2337001	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725756	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4869077	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57989047	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66525444	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851511	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830099	1.00[ASN][1000 genomes]
rs7448951	1.00[ASN][1000 genomes]
rs9313387	1.00[ASN][1000 genomes]
rs9313388	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167178200-167181800	Weak transcription	HSMMtube	muscle
3	chr5:167178200-167182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167178600-167182000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:167178600-167186200	Weak transcription	Osteobl	bone
6	chr5:167179000-167182000	Weak transcription	HSMM	muscle
7	chr5:167180000-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167180400-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167180400-167185200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:167180800-167181800	Enhancers	NHDF-Ad	bronchial
11	chr5:167181200-167181800	Enhancers	NH-A	brain
12	chr5:167181200-167182400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:167181200-167182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:167181200-167185200	Weak transcription	NHEK	skin
15	chr5:167181400-167182000	Weak transcription	Fetal Kidney	kidney
16	chr5:167181400-167182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:167181400-167183000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:167181400-167185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:167181600-167182400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:167181600-167182400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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