Variant report

Variant	rs73481069
Chromosome Location	chr11:58670517-58670518
allele	C/T
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	JUND	chr11:58670418-58670679	HepG2	liver:	n/a	n/a
2	JUN	chr11:58670454-58670699	HepG2	liver:	n/a	chr11:58670545-58670558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58661995..58664743-chr11:58668611..58670936,2	K562	blood:

Variant related genes	Relation type
GLYATL1	TF binding region
ENSG00000224130	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11820828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59155521	1.00[EUR][1000 genomes]
rs73481071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3502182	chr11:58668199-58731237	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3502181	chr11:58668236-58731215	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3478019	chr11:58668282-58731214	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3478030	chr11:58668282-58731214	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3502183	chr11:58668353-58731177	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58651000-58671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:58659400-58671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:58665200-58671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:58668400-58670600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:58668400-58670600	Weak transcription	NHDF-Ad	bronchial
6	chr11:58668400-58670800	Weak transcription	NHLF	lung
7	chr11:58668400-58672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:58668400-58672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:58668400-58672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:58668400-58672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:58668600-58671600	Weak transcription	Fetal Kidney	kidney
12	chr11:58668600-58672400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:58668800-58670600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:58668800-58671000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:58668800-58671400	Weak transcription	Fetal Brain Male	brain
16	chr11:58668800-58671800	Weak transcription	NH-A	brain
17	chr11:58668800-58672400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:58668800-58672400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:58668800-58672400	Weak transcription	Fetal Intestine Large	intestine
20	chr11:58668800-58672400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:58668800-58672400	Weak transcription	A549	lung
22	chr11:58668800-58672400	Weak transcription	NHEK	skin
23	chr11:58668800-58672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:58668800-58672600	Weak transcription	Pancreas	Pancrea
25	chr11:58669200-58671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:58670000-58670600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr11:58670200-58671000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:58670200-58671000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:58670200-58671000	Enhancers	Fetal Brain Female	brain
30	chr11:58670200-58671200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:58670400-58670600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:58670400-58670600	Enhancers	HSMMtube	muscle
33	chr11:58670400-58671600	Enhancers	HMEC	breast

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