Variant report

Variant	rs58651706
Chromosome Location	chr18:9477113-9477114
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	YY1	chr18:9476911-9477189	GM12878	blood:	n/a	n/a
2	SREBP1	chr18:9474830-9477120	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9476151..9478353-chr18:9485460..9487930,2	MCF-7	breast:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9471240..9474381-chr18:9476825..9479081,3	K562	blood:
4	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273335	TF binding region
ENSG00000273335	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10468796	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10468797	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853380	0.85[ASN][1000 genomes]
rs11659625	0.85[EUR][1000 genomes]
rs11663979	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12386073	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12386075	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12386078	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12454651	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12454987	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12457895	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561997	0.86[ASN][1000 genomes]
rs16955157	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2028660	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2061692	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241943	0.86[ASN][1000 genomes]
rs28510500	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs437769	0.81[ASN][1000 genomes]
rs4798819	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57491759	0.82[EUR][1000 genomes]
rs58103465	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59277394	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62086154	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62087367	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087375	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7234529	0.92[ASN][1000 genomes]
rs7235585	0.92[ASN][1000 genomes]
rs7238922	0.86[ASN][1000 genomes]
rs73395727	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9474600-9477200	Active TSS	Brain Germinal Matrix	brain
2	chr18:9474600-9477400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:9474800-9477200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:9474800-9477200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:9474800-9477200	Active TSS	Hela-S3	cervix
6	chr18:9474800-9477200	Active TSS	HSMM	muscle
7	chr18:9474800-9477400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:9475000-9477200	Active TSS	GM12878-XiMat	blood
9	chr18:9476000-9477200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9476000-9478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:9476000-9478000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:9476400-9477200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:9476400-9477200	Enhancers	Small Intestine	intestine
14	chr18:9476400-9478400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:9476600-9477200	Enhancers	Primary B cells from peripheral blood	blood
16	chr18:9476600-9477200	Enhancers	Left Ventricle	heart
17	chr18:9476600-9477200	Enhancers	Spleen	Spleen
18	chr18:9476600-9477400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr18:9476600-9477400	Flanking Active TSS	Dnd41	blood
20	chr18:9476600-9477800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr18:9476600-9477800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr18:9476600-9478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:9476600-9478400	Weak transcription	Aorta	Aorta
24	chr18:9476600-9478400	Weak transcription	Gastric	stomach
25	chr18:9476600-9478400	Weak transcription	Lung	lung
26	chr18:9476600-9481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:9476600-9481800	Weak transcription	Pancreas	Pancrea
28	chr18:9476600-9484200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:9476800-9477200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:9476800-9477200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:9476800-9477200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:9476800-9477200	Enhancers	Fetal Brain Female	brain
33	chr18:9476800-9477200	Enhancers	Psoas Muscle	Psoas
34	chr18:9476800-9477200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr18:9476800-9477400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr18:9476800-9477400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr18:9476800-9477400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr18:9476800-9477400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:9476800-9477400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr18:9476800-9477400	Enhancers	Brain Substantia Nigra	brain
41	chr18:9476800-9477400	Enhancers	A549	lung
42	chr18:9476800-9477400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr18:9476800-9477600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr18:9476800-9477600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr18:9476800-9477600	Enhancers	Liver	Liver
46	chr18:9476800-9477600	Enhancers	Brain Cingulate Gyrus	brain
47	chr18:9476800-9477600	Enhancers	Fetal Brain Male	brain
48	chr18:9476800-9477600	Enhancers	Rectal Smooth Muscle	rectum
49	chr18:9476800-9477800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr18:9476800-9477800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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