Variant report

Variant	rs4705549
Chromosome Location	chr5:112573306-112573307
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	EP300	chr5:112572466-112576241	SK-N-SH	brain:	n/a	chr5:112572962-112572976
2	MXI1	chr5:112573008-112574714	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr5:112573295-112573973	SH-SY5Y	brain:	n/a	chr5:112573963-112573973

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

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10428666	0.84[EUR][1000 genomes]
rs10519343	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10519346	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241197	0.92[EUR][1000 genomes]
rs11740190	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740318	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740353	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11740443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741794	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741937	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11746532	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11746791	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748058	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748465	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748503	0.84[EUR][1000 genomes]
rs11748524	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11749864	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12186466	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188069	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188070	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188230	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12521391	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12522683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12522862	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12523027	0.92[EUR][1000 genomes]
rs12523284	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135454	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135463	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135506	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135507	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135514	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135515	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135517	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135519	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135520	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135526	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135531	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135546	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17164185	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1845289	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1850410	0.89[EUR][1000 genomes]
rs1850411	0.81[EUR][1000 genomes]
rs34271294	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4632792	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4705810	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56294433	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60437559	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594695	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594696	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594697	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6879761	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73244759	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73244767	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73244768	0.83[ASN][1000 genomes]
rs73244770	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73244772	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73246604	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73246629	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73246681	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7703865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:48 , 50 per page) page: 1

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	chr5:112568600-112575000	Weak transcription	Left Ventricle	heart
6	chr5:112568800-112575200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:112569000-112575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:112569000-112577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:112569400-112573400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:112569600-112574000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:112569600-112575400	Weak transcription	Fetal Brain Female	brain
12	chr5:112570000-112574000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:112570200-112573600	Weak transcription	Fetal Stomach	stomach
14	chr5:112570200-112574000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:112570200-112576200	Enhancers	Fetal Heart	heart
16	chr5:112570800-112573600	Weak transcription	Ovary	ovary
17	chr5:112570800-112580600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:112571000-112573600	Weak transcription	Adipose Nuclei	Adipose
19	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:112571400-112574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:112571600-112574200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:112571800-112579400	Weak transcription	Esophagus	oesophagus
23	chr5:112572000-112581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:112572200-112573400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:112572200-112576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:112572400-112574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:112572400-112574800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:112572400-112575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:112572400-112580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112572400-112590400	Weak transcription	Liver	Liver
31	chr5:112572600-112573600	Weak transcription	Fetal Lung	lung
32	chr5:112572600-112573600	Enhancers	Psoas Muscle	Psoas
33	chr5:112572600-112574600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112572600-112577200	Weak transcription	HMEC	breast
35	chr5:112572600-112585800	Weak transcription	Pancreas	Pancrea
36	chr5:112572800-112573800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:112572800-112574000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:112572800-112574000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:112572800-112575400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:112572800-112578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:112572800-112581800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:112573000-112573400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:112573000-112573400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:112573200-112573400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:112573200-112574000	Enhancers	Fetal Brain Male	brain
46	chr5:112573200-112574000	Enhancers	Right Atrium	heart
47	chr5:112573200-112574000	Enhancers	NHEK	skin
48	chr5:112573200-112574600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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