Variant report

Variant	rs11791457
Chromosome Location	chr9:72379043-72379044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr9:72378622-72379103	A549	lung:	n/a	n/a
2	FOXA2	chr9:72378517-72379131	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72375011..72377307-chr9:72377548..72379098,2	K562	blood:
2	chr9:72375078..72376578-chr9:72378308..72381037,2	K562	blood:
3	chr9:72369892..72372039-chr9:72377603..72379852,2	MCF-7	breast:
4	chr9:72375017..72376522-chr9:72378625..72381142,2	MCF-7	breast:
5	chr9:72371967..72374601-chr9:72378093..72381020,2	K562	blood:

No data

Variant related genes	Relation type
PTAR1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10780598	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867952	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10867966	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10867987	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868033	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11139997	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11140181	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11140185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793130	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12376529	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13287102	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293591	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13293770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1411411	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536993	0.86[AMR][1000 genomes]
rs2026795	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3904635	0.83[AMR][1000 genomes]
rs4273913	0.86[AMR][1000 genomes]
rs56040923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7027072	0.83[AMR][1000 genomes]
rs7866040	0.84[AMR][1000 genomes]
rs918337	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72375400-72379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:72375600-72383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:72375600-72383200	Weak transcription	HSMMtube	muscle
4	chr9:72377200-72383400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:72377800-72383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:72378000-72379200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr9:72378000-72379600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:72378000-72382400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:72378000-72382800	Weak transcription	Osteobl	bone
10	chr9:72378000-72383200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:72378000-72383200	Weak transcription	NHDF-Ad	bronchial
12	chr9:72378200-72380400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:72378200-72382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72378600-72379200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:72378800-72379600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:72379000-72379200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:72379000-72379200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr9:72379000-72379400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr9:72379000-72379400	Enhancers	Fetal Intestine Large	intestine
20	chr9:72379000-72379400	Enhancers	Fetal Kidney	kidney
21	chr9:72379000-72379400	Enhancers	HepG2	liver
22	chr9:72379000-72380000	Enhancers	A549	lung
23	chr9:72379000-72380200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:72379000-72380200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:72379000-72380400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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