Variant report

Variant	rs11930260
Chromosome Location	chr4:55452412-55452413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55444047..55449090-chr4:55449528..55453666,5	K562	blood:
2	chr4:55451154..55453615-chr4:55461278..55463785,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11733102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11942683	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826756	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864910	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61029264	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs969657	0.96[EUR][1000 genomes];0.94[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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking 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	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
6	nsv1004488	chr4:55440944-55511101	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1009708	chr4:55440944-55513275	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1010702	chr4:55440944-55528450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1003671	chr4:55445652-55513275	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1001906	chr4:55447189-55505721	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv537100	chr4:55447189-55505721	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv521933	chr4:55449616-55512066	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11930260	IGFBP7	cis	parietal	SCAN
rs11930260	SRP72	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55451400-55453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:55451400-55453800	Enhancers	Fetal Intestine Large	intestine
3	chr4:55451400-55454000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:55451800-55452600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:55451800-55453200	Enhancers	NHDF-Ad	bronchial
6	chr4:55452000-55452600	Enhancers	Osteobl	bone
7	chr4:55452000-55453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:55452000-55453000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:55452000-55453600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:55452000-55453800	Enhancers	Fetal Intestine Small	intestine
11	chr4:55452000-55453800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:55452000-55454000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:55452000-55455400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:55452000-55455400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:55452000-55455800	Enhancers	HMEC	breast
16	chr4:55452000-55457200	Enhancers	NHEK	skin
17	chr4:55452000-55457600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:55452200-55452600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr4:55452200-55453000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:55452200-55453200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:55452200-55455400	Enhancers	K562	blood
22	chr4:55452400-55452800	Enhancers	NH-A	brain
23	chr4:55452400-55453000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:55452400-55453000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:55452400-55453000	Enhancers	Lung	lung
26	chr4:55452400-55453000	Enhancers	NHLF	lung
27	chr4:55452400-55453800	Enhancers	Esophagus	oesophagus
28	chr4:55452400-55453800	Enhancers	Placenta	Placenta
29	chr4:55452400-55454000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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