Variant report

Variant	rs4958018
Chromosome Location	chr5:111562229-111562230
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	EBF1	chr5:111561988-111562509	GM12878	blood:	n/a	chr5:111562324-111562335
2	CUX1	chr5:111562229-111562346	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111562024..111564609-chr5:133861458..133863356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251076	TF binding region
ENSG00000043143	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11241155	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11241156	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11740678	0.95[JPT][hapmap]
rs11741200	0.98[ASN][1000 genomes]
rs12515317	0.84[CHB][hapmap]
rs4958019	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4958021	0.88[ASN][1000 genomes]
rs58264361	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6421836	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6887281	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs73229372	0.86[EUR][1000 genomes]
rs7729283	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7732687	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs7733521	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS 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	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111538600-111563600	Weak transcription	Lung	lung
3	chr5:111554000-111562800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:111554200-111563600	Weak transcription	Left Ventricle	heart
5	chr5:111554200-111563600	Weak transcription	Right Ventricle	heart
6	chr5:111554200-111568400	Weak transcription	Right Atrium	heart
7	chr5:111557000-111563600	Weak transcription	Stomach Mucosa	stomach
8	chr5:111558600-111563200	Weak transcription	Pancreas	Pancrea
9	chr5:111558600-111563400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
11	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:111559400-111564200	Weak transcription	Liver	Liver
13	chr5:111560200-111563600	Enhancers	Fetal Heart	heart
14	chr5:111561000-111562800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:111561200-111562400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111561400-111562400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:111561400-111562600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:111561400-111564200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:111561400-111564400	Weak transcription	Spleen	Spleen
20	chr5:111561600-111562400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:111561600-111562400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:111561600-111562400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:111561600-111562400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:111561600-111562400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:111561600-111562800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:111562000-111564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:111562000-111564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:111562000-111564200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:111562200-111563400	Weak transcription	Fetal Lung	lung
30	chr5:111562200-111563400	Enhancers	A549	lung
31	chr5:111562200-111565200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:111562200-111566200	Weak transcription	Fetal Brain Male	brain
33	chr5:111562200-111570200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:111562200-111574400	Weak transcription	H1 Cell Line	embryonic stem cell

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