Variant report

Variant	rs73244769
Chromosome Location	chr5:112575296-112575297
allele	A/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	EP300	chr5:112572466-112576241	SK-N-SH	brain:	n/a	chr5:112572962-112572976

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10519343	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519345	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10519346	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11740190	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740233	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740318	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740353	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740443	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11743052	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11744606	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11746532	0.81[AMR][1000 genomes]
rs11746791	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11746821	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11748058	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11748524	0.80[AMR][1000 genomes]
rs12186466	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12188069	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12188070	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12188230	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12518849	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12522862	0.80[ASN][1000 genomes]
rs17135488	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17135506	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17135507	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17135514	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17135515	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17135517	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17135519	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17135520	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17135526	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17135531	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1845289	0.81[AMR][1000 genomes]
rs1997521	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2091803	0.85[ASN][1000 genomes]
rs2091804	0.85[ASN][1000 genomes]
rs4632792	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4705806	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4705807	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4705808	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4705809	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4705810	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56362568	0.85[AFR][1000 genomes]
rs59107004	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59222257	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs60087454	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs60437559	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594695	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594696	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6594697	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs66893265	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67063423	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67373655	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67550282	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs68069850	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6879761	0.90[ASN][1000 genomes]
rs6887565	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6888602	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73244767	0.84[AMR][1000 genomes]
rs73244768	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73244770	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73244772	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73244779	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73246604	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73246629	0.80[AMR][1000 genomes]
rs7724707	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7724717	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7724936	0.93[AFR][1000 genomes];0.87[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:46 , 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	chr5:112569000-112575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:112569000-112577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:112569600-112575400	Weak transcription	Fetal Brain Female	brain
6	chr5:112570200-112576200	Enhancers	Fetal Heart	heart
7	chr5:112570800-112580600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:112571800-112579400	Weak transcription	Esophagus	oesophagus
10	chr5:112572000-112581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112572200-112576200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:112572400-112575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:112572400-112580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:112572400-112590400	Weak transcription	Liver	Liver
15	chr5:112572600-112577200	Weak transcription	HMEC	breast
16	chr5:112572600-112585800	Weak transcription	Pancreas	Pancrea
17	chr5:112572800-112575400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:112572800-112578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:112572800-112581800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:112573400-112575400	Enhancers	Colon Smooth Muscle	Colon
21	chr5:112573400-112579400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:112573600-112575600	Enhancers	Fetal Stomach	stomach
23	chr5:112573600-112577400	Weak transcription	Psoas Muscle	Psoas
24	chr5:112573800-112577400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:112574000-112575400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:112574000-112575600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:112574000-112576400	Weak transcription	Right Atrium	heart
28	chr5:112574000-112576400	Weak transcription	NHEK	skin
29	chr5:112574000-112576800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:112574000-112577600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:112574000-112580200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:112574000-112580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:112574200-112578400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:112574200-112581000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:112574600-112576400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112574600-112578200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:112575000-112575400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:112575000-112576600	Enhancers	Right Ventricle	heart
39	chr5:112575000-112576800	Enhancers	Left Ventricle	heart
40	chr5:112575000-112581000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:112575000-112581200	Weak transcription	Adipose Nuclei	Adipose
42	chr5:112575200-112575600	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:112575200-112576400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:112575200-112579800	Enhancers	Ovary	ovary
45	chr5:112575200-112580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:112575200-112581400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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