Variant report

Variant	rs4920894
Chromosome Location	chr5:115150334-115150335
allele	C/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	FOXA1	chr5:115150153-115150534	HepG2	liver:	n/a	n/a
2	TCF7L2	chr5:115150197-115150483	HepG2	liver:	n/a	n/a
3	FOXA2	chr5:115150198-115150450	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115149403..115152060-chr5:115175796..115178394,2	MCF-7	breast:
2	chr5:115147173..115150653-chr5:115151450..115154733,4	K562	blood:

Variant related genes	Relation type
CDO1	TF binding region
ENSG00000129596	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000145782	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10058994	0.88[AMR][1000 genomes]
rs10477545	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10478261	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10519429	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs11241338	1.00[MEX][hapmap]
rs11951965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958544	0.83[AMR][1000 genomes]
rs11959754	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11960070	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12782	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968365	0.88[AMR][1000 genomes]
rs60326315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594908	1.00[CEU][hapmap];0.80[LWK][hapmap];0.81[MKK][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6865002	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265491	0.88[AMR][1000 genomes]
rs73267415	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780662	0.86[EUR][1000 genomes]
rs9326975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115138400-115150800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:115138400-115151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:115143000-115150400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:115146000-115150600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:115149000-115151800	Active TSS	Right Atrium	heart
6	chr5:115149200-115150800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr5:115149200-115150800	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr5:115149200-115151200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr5:115149200-115152800	Active TSS	Aorta	Aorta
10	chr5:115149400-115151000	Active TSS	Brain Angular Gyrus	brain
11	chr5:115149400-115151200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
12	chr5:115149600-115150400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:115149600-115150800	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:115149600-115151000	Flanking Active TSS	Fetal Brain Male	brain
15	chr5:115149600-115151000	Enhancers	Ovary	ovary
16	chr5:115149600-115151200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:115149600-115151600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:115149600-115152200	Bivalent/Poised TSS	Psoas Muscle	Psoas
19	chr5:115149800-115150600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:115149800-115150600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:115149800-115151400	Active TSS	Placenta	Placenta
22	chr5:115149800-115153000	Active TSS	Liver	Liver
23	chr5:115150000-115150400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr5:115150000-115150400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:115150000-115150400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr5:115150000-115150600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr5:115150000-115150600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr5:115150000-115150600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr5:115150000-115150800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:115150000-115150800	Active TSS	Brain Hippocampus Middle	brain
31	chr5:115150200-115150400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr5:115150200-115150400	Active TSS	Adipose Nuclei	Adipose
33	chr5:115150200-115150400	Bivalent Enhancer	HepG2	liver
34	chr5:115150200-115150600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr5:115150200-115150600	Active TSS	Fetal Brain Female	brain
36	chr5:115150200-115151000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115150200-115152600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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