Variant report

Variant	rs73244743
Chromosome Location	chr5:112541172-112541173
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	EP300	chr5:112541046-112541475	HepG2	liver:	n/a	n/a
2	FOXA1	chr5:112541114-112541377	HepG2	liver:	n/a	n/a
3	GATA3	chr5:112540868-112541368	T-47D	breast:	n/a	n/a
4	FOXA2	chr5:112541051-112541342	HepG2	liver:	n/a	n/a
5	FOXA1	chr5:112540860-112541333	T-47D	breast:	n/a	n/a
6	FOXA1	chr5:112541031-112541436	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:112541080-112541800	HepG2	liver:	n/a	chr5:112541242-112541255
8	GATA3	chr5:112541012-112541443	T-47D	breast:	n/a	n/a
9	FOXA1	chr5:112540997-112541404	HepG2	liver:	n/a	n/a
10	CTCF	chr5:112541040-112541190	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112537173..112539985-chr5:112540177..112543162,2	K562	blood:
2	chr5:112541156..112542138-chr5:112665995..112666868,4	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10035647	1.00[ASN][1000 genomes]
rs10037038	1.00[ASN][1000 genomes]
rs10069434	1.00[ASN][1000 genomes]
rs10076511	1.00[ASN][1000 genomes]
rs10519339	1.00[ASN][1000 genomes]
rs10519340	1.00[ASN][1000 genomes]
rs10519342	1.00[ASN][1000 genomes]
rs11241199	1.00[ASN][1000 genomes]
rs11951541	1.00[ASN][1000 genomes]
rs11958840	1.00[ASN][1000 genomes]
rs13362511	1.00[ASN][1000 genomes]
rs17135464	1.00[ASN][1000 genomes]
rs17135493	1.00[ASN][1000 genomes]
rs17135511	1.00[ASN][1000 genomes]
rs1968992	1.00[ASN][1000 genomes]
rs2091802	1.00[ASN][1000 genomes]
rs55967427	1.00[ASN][1000 genomes]
rs56104704	1.00[ASN][1000 genomes]
rs56410005	1.00[ASN][1000 genomes]
rs57602920	1.00[ASN][1000 genomes]
rs57696719	1.00[ASN][1000 genomes]
rs57948635	1.00[ASN][1000 genomes]
rs58069204	1.00[ASN][1000 genomes]
rs58237028	1.00[ASN][1000 genomes]
rs58879623	1.00[ASN][1000 genomes]
rs59101992	1.00[ASN][1000 genomes]
rs59673184	1.00[ASN][1000 genomes]
rs59807191	1.00[ASN][1000 genomes]
rs60185446	1.00[ASN][1000 genomes]
rs60590719	1.00[ASN][1000 genomes]
rs60636636	1.00[ASN][1000 genomes]
rs60727695	1.00[ASN][1000 genomes]
rs61643643	1.00[ASN][1000 genomes]
rs61692685	1.00[ASN][1000 genomes]
rs62374390	1.00[ASN][1000 genomes]
rs634261	1.00[ASN][1000 genomes]
rs6859436	1.00[ASN][1000 genomes]
rs6859619	1.00[ASN][1000 genomes]
rs6874561	1.00[ASN][1000 genomes]
rs6878329	1.00[ASN][1000 genomes]
rs6899178	1.00[ASN][1000 genomes]
rs73244736	1.00[ASN][1000 genomes]
rs73244737	1.00[ASN][1000 genomes]
rs73244738	1.00[ASN][1000 genomes]
rs73244740	1.00[ASN][1000 genomes]
rs73244742	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244754	1.00[ASN][1000 genomes]
rs73244755	1.00[ASN][1000 genomes]
rs73244756	1.00[ASN][1000 genomes]
rs73244763	1.00[ASN][1000 genomes]
rs73244764	1.00[ASN][1000 genomes]
rs73244773	1.00[ASN][1000 genomes]
rs73244797	1.00[ASN][1000 genomes]
rs73246617	1.00[ASN][1000 genomes]
rs7702837	1.00[ASN][1000 genomes]
rs7708947	1.00[ASN][1000 genomes]
rs7710138	1.00[ASN][1000 genomes]
rs7723474	1.00[ASN][1000 genomes]
rs9326885	1.00[ASN][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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112533800-112541400	Weak transcription	Spleen	Spleen
2	chr5:112536400-112541800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:112537200-112541800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:112537200-112542000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:112537400-112541200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:112537400-112541800	Enhancers	Adipose Nuclei	Adipose
7	chr5:112537600-112541200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:112538000-112541400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112538400-112541200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:112538600-112541800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:112538600-112542000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:112538800-112541800	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:112538800-112542000	Enhancers	HMEC	breast
14	chr5:112538800-112544200	Weak transcription	Fetal Kidney	kidney
15	chr5:112539000-112541400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:112539000-112542000	Enhancers	Right Ventricle	heart
17	chr5:112539000-112547200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:112539200-112541200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:112539200-112541400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:112539200-112541600	Weak transcription	Gastric	stomach
21	chr5:112539200-112541600	Weak transcription	Lung	lung
22	chr5:112539200-112541800	Enhancers	Brain Hippocampus Middle	brain
23	chr5:112539200-112549200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:112539400-112541800	Flanking Active TSS	Liver	Liver
26	chr5:112539400-112541800	Enhancers	Fetal Lung	lung
27	chr5:112539400-112542000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:112539400-112542000	Enhancers	Right Atrium	heart
29	chr5:112539400-112542600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:112539400-112548000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:112539400-112548000	Weak transcription	Fetal Stomach	stomach
32	chr5:112539600-112544800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:112539800-112541800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:112539800-112542000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:112539800-112546800	Enhancers	Fetal Heart	heart
36	chr5:112539800-112548200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:112540000-112541600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:112540000-112541600	Enhancers	Brain Anterior Caudate	brain
39	chr5:112540000-112542000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:112540000-112547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:112540000-112548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:112540200-112542000	Enhancers	Brain Substantia Nigra	brain
43	chr5:112540200-112542000	Enhancers	Left Ventricle	heart
44	chr5:112540200-112542400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:112540400-112541600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:112540400-112542000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112540400-112542200	Enhancers	NHEK	skin
48	chr5:112540400-112548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:112540600-112541200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr5:112540600-112541200	Active TSS	Fetal Brain Male	brain

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