Variant report

Variant	rs13150818
Chromosome Location	chr4:8444572-8444573
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	TEAD4	chr4:8444395-8444721	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
2	chr4:8439633..8442569-chr4:8444253..8445753,2	MCF-7	breast:
3	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

Variant related genes	Relation type
ACOX3	TF binding region
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10016221	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10017177	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1006113	0.95[ASN][1000 genomes]
rs10938710	0.82[ASN][1000 genomes]
rs10938712	0.91[ASN][1000 genomes]
rs11721377	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11724408	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11731308	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11931965	0.92[ASN][1000 genomes]
rs11934603	0.93[ASN][1000 genomes]
rs11938364	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13103946	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13107329	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13130336	0.94[ASN][1000 genomes]
rs13134272	0.93[ASN][1000 genomes]
rs13136987	0.94[ASN][1000 genomes]
rs13139522	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1568692	0.93[ASN][1000 genomes]
rs1568693	0.93[ASN][1000 genomes]
rs2242483	0.94[ASN][1000 genomes]
rs2293229	0.93[ASN][1000 genomes]
rs28637781	0.92[ASN][1000 genomes]
rs28805000	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34947973	0.93[ASN][1000 genomes]
rs35893558	0.93[ASN][1000 genomes]
rs3796740	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4543095	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447868	0.91[ASN][1000 genomes]
rs73087705	0.93[ASN][1000 genomes]
rs7668735	0.95[ASN][1000 genomes]
rs7696306	0.95[ASN][1000 genomes]
rs9291391	0.92[ASN][1000 genomes]
rs9291392	0.92[ASN][1000 genomes]
rs950306	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13150818	RP11-689P11.2	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr4:8441800-8444600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:8441800-8444600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8442800-8444600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr4:8442800-8444800	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr4:8443000-8445000	Flanking Active TSS	Dnd41	blood
7	chr4:8443200-8444600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:8443200-8445000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:8443200-8445000	Enhancers	Spleen	Spleen
12	chr4:8443200-8445200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:8443400-8444600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr4:8443400-8444600	Flanking Active TSS	HMEC	breast
15	chr4:8443400-8444800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:8443400-8444800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:8443400-8444800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:8443400-8444800	Enhancers	Aorta	Aorta
21	chr4:8443400-8445000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:8443400-8445000	Flanking Active TSS	Hela-S3	cervix
23	chr4:8443400-8445200	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:8443600-8444600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:8443600-8444800	Enhancers	Fetal Brain Male	brain
26	chr4:8443600-8445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:8443600-8445000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:8443600-8445000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:8443600-8445200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:8443600-8445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:8443600-8445200	Enhancers	Small Intestine	intestine
32	chr4:8443600-8445200	Enhancers	Thymus	Thymus
33	chr4:8443600-8445400	Enhancers	Placenta	Placenta
34	chr4:8443600-8445800	Enhancers	Fetal Heart	heart
35	chr4:8443600-8447800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:8443600-8455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8443800-8444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:8443800-8444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:8443800-8444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:8443800-8444600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:8443800-8444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:8443800-8445000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:8443800-8445000	Enhancers	Fetal Thymus	thymus
44	chr4:8443800-8445200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:8443800-8445200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:8443800-8445200	Enhancers	Brain Anterior Caudate	brain
47	chr4:8443800-8445200	Enhancers	Gastric	stomach
48	chr4:8443800-8445200	Enhancers	Left Ventricle	heart
49	chr4:8443800-8445200	Enhancers	Pancreas	Pancrea
50	chr4:8443800-8445200	Enhancers	Right Ventricle	heart

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