Variant report

Variant	rs9545244
Chromosome Location	chr13:80443513-80443514
allele	G/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	TCF7L2	chr13:80443398-80443655	HepG2	liver:	n/a	n/a
2	KAP1	chr13:80443387-80443925	HEK293	kidney:	n/a	n/a
3	EP300	chr13:80443414-80443827	HepG2	liver:	n/a	n/a
4	GATA3	chr13:80443369-80443795	MCF-7	breast:	n/a	n/a
5	NFIC	chr13:80443290-80443702	HepG2	liver:	n/a	chr13:80443600-80443616 chr13:80443599-80443616
6	MXI1	chr13:80443425-80443839	HepG2	liver:	n/a	chr13:80443667-80443682
7	GATA3	chr13:80443426-80443626	SH-SY5Y	brain:	n/a	n/a
8	MAFK	chr13:80443493-80444647	H1-hESC	embryonic stem cell:	n/a	chr13:80444381-80444397 chr13:80444379-80444399 chr13:80444382-80444396 chr13:80444378-80444393
9	FOXA1	chr13:80443383-80443758	T-47D	breast:	n/a	n/a
10	FOXA1	chr13:80443325-80443765	HepG2	liver:	n/a	n/a
11	NR2F2	chr13:80443443-80443837	HepG2	liver:	n/a	n/a
12	TCF7L2	chr13:80443407-80443803	MCF-7	breast:	n/a	n/a
13	FOXA1	chr13:80443289-80443840	HepG2	liver:	n/a	n/a
14	FOXA2	chr13:80443436-80443772	HepG2	liver:	n/a	n/a
15	FOXA1	chr13:80443318-80443715	HepG2	liver:	n/a	n/a
16	FOXA1	chr13:80443357-80443850	HepG2	liver:	n/a	n/a
17	GATA3	chr13:80443279-80443865	SK-N-SH	brain:	n/a	chr13:80443285-80443295
18	SP1	chr13:80443407-80443812	HepG2	liver:	n/a	n/a
19	GATA3	chr13:80443344-80443904	SK-N-SH	brain:	n/a	n/a
20	TCF7L2	chr13:80443393-80443805	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
LINC00382	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12430995	0.99[ASN][1000 genomes]
rs12876803	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335282	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360812	0.84[ASN][1000 genomes]
rs1360814	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1889642	0.94[ASN][1000 genomes]
rs2329139	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619276	0.94[ASN][1000 genomes]
rs9530980	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530981	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545217	0.94[ASN][1000 genomes]
rs9545219	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9545224	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9545241	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574501	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[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	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80439200-80443600	Weak transcription	Fetal Intestine Large	intestine
2	chr13:80440000-80444800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:80441400-80443600	Weak transcription	Fetal Thymus	thymus
4	chr13:80441600-80443600	Weak transcription	Thymus	Thymus
5	chr13:80442000-80443600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:80442000-80443600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:80442000-80448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:80442600-80445200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:80443200-80443800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:80443200-80443800	Enhancers	Primary T cells from cord blood	blood
11	chr13:80443200-80444000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:80443200-80444800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:80443200-80444800	Enhancers	NHEK	skin
14	chr13:80443200-80445200	Enhancers	HMEC	breast
15	chr13:80443200-80445600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:80443400-80443600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr13:80443400-80443600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:80443400-80443600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr13:80443400-80443600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:80443400-80443600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:80443400-80443800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:80443400-80444000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr13:80443400-80444000	Enhancers	Stomach Mucosa	stomach
24	chr13:80443400-80444000	Enhancers	Hela-S3	cervix
25	chr13:80443400-80444200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr13:80443400-80444200	Enhancers	A549	lung
27	chr13:80443400-80444400	Enhancers	Fetal Intestine Small	intestine
28	chr13:80443400-80444600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr13:80443400-80444600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:80443400-80444600	Enhancers	Primary hematopoietic stem cells	blood
31	chr13:80443400-80444600	Enhancers	Duodenum Mucosa	Duodenum
32	chr13:80443400-80444600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr13:80443400-80444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:80443400-80445000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:80443400-80445200	Enhancers	HUVEC	blood vessel
36	chr13:80443400-80445400	Enhancers	Cortex derived primary cultured neurospheres	brain

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