Variant report

Variant	rs11726533
Chromosome Location	chr4:186842354-186842355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11727354	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11733540	0.93[ASN][1000 genomes]
rs13110925	0.99[ASN][1000 genomes]
rs13114899	0.83[ASN][1000 genomes]
rs13120409	0.80[ASN][1000 genomes]
rs13126254	0.93[ASN][1000 genomes]
rs13128199	0.92[ASN][1000 genomes]
rs13140248	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1947455	0.81[JPT][hapmap]
rs34146217	0.86[ASN][1000 genomes]
rs34194389	0.91[ASN][1000 genomes]
rs34239936	0.94[ASN][1000 genomes]
rs34371287	0.99[ASN][1000 genomes]
rs34456597	0.80[ASN][1000 genomes]
rs34614903	0.92[ASN][1000 genomes]
rs36040554	0.93[ASN][1000 genomes]
rs4862593	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4862596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4862600	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs62336483	0.92[ASN][1000 genomes]
rs6552934	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:186837200-186842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:186837200-186842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:186837600-186842800	Weak transcription	Osteobl	bone
4	chr4:186837600-186843400	Weak transcription	Spleen	Spleen
5	chr4:186838000-186842800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:186838000-186843000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:186838200-186842800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:186838200-186847000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:186838400-186842800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:186838600-186847000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:186841600-186842600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:186841600-186842600	Active TSS	Fetal Heart	heart
13	chr4:186841600-186843600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:186842000-186842400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:186842000-186843000	Active TSS	Left Ventricle	heart
16	chr4:186842000-186843000	Active TSS	Right Atrium	heart
17	chr4:186842200-186842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:186842200-186842400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:186842200-186842400	Enhancers	Aorta	Aorta
20	chr4:186842200-186842600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:186842200-186842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:186842200-186843000	Enhancers	HUES64 Cell Line	embryonic stem cell

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