Variant report

Variant	rs9927137
Chromosome Location	chr16:30634300-30634301
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	TEAD4	chr16:30633813-30634340	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30631964..30634523-chr16:30638900..30640577,2	MCF-7	breast:
2	chr16:30405439..30407171-chr16:30633264..30634784,2	K562	blood:
3	chr16:30622536..30624274-chr16:30632028..30634418,2	K562	blood:

Variant related genes	Relation type
ENSG00000260113	TF binding region
ENSG00000180096	Chromatin interaction
ENSG00000180035	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12918327	0.98[ASN][1000 genomes]
rs28728333	1.00[ASN][1000 genomes]
rs28841118	1.00[ASN][1000 genomes]
rs34699226	0.91[ASN][1000 genomes]
rs35661204	0.85[ASN][1000 genomes]
rs36064568	0.94[ASN][1000 genomes]
rs4485386	1.00[ASN][1000 genomes]
rs55875685	0.93[ASN][1000 genomes]
rs6565192	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6565195	0.98[ASN][1000 genomes]
rs67693285	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184055	0.89[ASN][1000 genomes]
rs7185620	1.00[ASN][1000 genomes]
rs7186852	1.00[ASN][1000 genomes]
rs7187071	1.00[ASN][1000 genomes]
rs7187802	0.89[ASN][1000 genomes]
rs7188789	0.89[ASN][1000 genomes]
rs7191389	1.00[ASN][1000 genomes]
rs7191761	1.00[ASN][1000 genomes]
rs7194347	1.00[ASN][1000 genomes]
rs7197475	1.00[ASN][1000 genomes]
rs7204632	1.00[ASN][1000 genomes]
rs7499339	0.98[ASN][1000 genomes]
rs9925025	1.00[ASN][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 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	chr16:30631400-30640000	Weak transcription	Fetal Brain Male	brain
2	chr16:30631800-30640000	Weak transcription	Fetal Intestine Large	intestine
3	chr16:30632000-30634400	Enhancers	Fetal Kidney	kidney
4	chr16:30632400-30636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:30632600-30634600	Enhancers	Hela-S3	cervix
6	chr16:30632600-30636200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:30633200-30635600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:30633400-30635200	Enhancers	Liver	Liver
9	chr16:30633400-30636000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:30633600-30634600	Enhancers	Fetal Intestine Small	intestine
11	chr16:30633800-30635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:30633800-30636000	Enhancers	K562	blood
13	chr16:30634000-30634800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:30634000-30635000	Flanking Active TSS	HepG2	liver
15	chr16:30634000-30635200	ZNF genes & repeats	HMEC	breast
16	chr16:30634000-30635400	ZNF genes & repeats	NHEK	skin
17	chr16:30634200-30634800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30634200-30634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:30634200-30635000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:30634200-30640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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