Variant report

Variant	rs2440190
Chromosome Location	chr5:112572450-112572451
allele	A/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	FOS	chr5:112571658-112572524	MCF10A-Er-Src	breast:	n/a	chr5:112571832-112571843 chr5:112572368-112572378 chr5:112572368-112572378 chr5:112571834-112571846 chr5:112572368-112572378 chr5:112571836-112571845
2	FOSL1	chr5:112571422-112572498	HCT-116	colon:	n/a	chr5:112571832-112571843 chr5:112572368-112572378 chr5:112572368-112572378 chr5:112571834-112571846 chr5:112572368-112572378 chr5:112571836-112571845
3	FOS	chr5:112572243-112572524	MCF10A-Er-Src	breast:	n/a	chr5:112572368-112572378 chr5:112572368-112572378 chr5:112572368-112572378
4	FOS	chr5:112571684-112572502	MCF10A-Er-Src	breast:	n/a	chr5:112571832-112571843 chr5:112572368-112572378 chr5:112572368-112572378 chr5:112571834-112571846 chr5:112572368-112572378 chr5:112571836-112571845
5	FOS	chr5:112572222-112572518	MCF10A-Er-Src	breast:	n/a	chr5:112572368-112572378 chr5:112572368-112572378 chr5:112572368-112572378

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112563565..112565158-chr5:112572143..112575087,2	MCF-7	breast:
2	chr5:112570824..112573255-chr5:112670003..112671538,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1662961	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3846718	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3846719	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705804	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs496977	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs520680	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs557438	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs602641	0.88[EUR][1000 genomes]
rs639680	0.97[EUR][1000 genomes]
rs652794	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
4	chr5:112566400-112574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112567400-112572800	Enhancers	Stomach Mucosa	stomach
6	chr5:112567400-112573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112568600-112575000	Weak transcription	Left Ventricle	heart
8	chr5:112568800-112572600	Weak transcription	Psoas Muscle	Psoas
9	chr5:112568800-112573000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:112568800-112575200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:112569000-112575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:112569000-112577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:112569400-112573400	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:112569600-112574000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:112569600-112575400	Weak transcription	Fetal Brain Female	brain
16	chr5:112569800-112573200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:112570000-112574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:112570200-112572600	Enhancers	HMEC	breast
19	chr5:112570200-112573600	Weak transcription	Fetal Stomach	stomach
20	chr5:112570200-112574000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:112570200-112576200	Enhancers	Fetal Heart	heart
22	chr5:112570600-112572800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:112570800-112572600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:112570800-112573200	Weak transcription	Right Atrium	heart
25	chr5:112570800-112573600	Weak transcription	Ovary	ovary
26	chr5:112570800-112580600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:112571000-112573600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:112571400-112574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:112571600-112574200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:112571800-112579400	Weak transcription	Esophagus	oesophagus
32	chr5:112572000-112572800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:112572000-112581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:112572200-112572600	Enhancers	Fetal Lung	lung
35	chr5:112572200-112572800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:112572200-112572800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:112572200-112572800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112572200-112573400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:112572200-112576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112572400-112572600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:112572400-112572600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:112572400-112572600	Enhancers	Fetal Brain Male	brain
43	chr5:112572400-112572600	Enhancers	Pancreas	Pancrea
44	chr5:112572400-112572800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:112572400-112572800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:112572400-112572800	Flanking Active TSS	NHEK	skin
47	chr5:112572400-112574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:112572400-112574800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:112572400-112575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:112572400-112580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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