Variant report

Variant	rs7233160
Chromosome Location	chr18:9620063-9620064
allele	A/C
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	ZNF384	chr18:9619947-9620384	K562	blood:	n/a	n/a
2	CEBPB	chr18:9619958-9620303	K562	blood:	n/a	chr18:9620226-9620237
3	CEBPB	chr18:9620050-9620426	HepG2	liver:	n/a	chr18:9620226-9620237
4	CEBPB	chr18:9620049-9620386	K562	blood:	n/a	chr18:9620226-9620237
5	CEBPB	chr18:9619999-9620321	A549	lung:	n/a	chr18:9620226-9620237
6	CEBPB	chr18:9620051-9620417	A549	lung:	n/a	chr18:9620226-9620237
7	CEBPB	chr18:9619429-9620429	IMR90	lung:	n/a	chr18:9620226-9620237
8	RCOR1	chr18:9619631-9620436	K562	blood:	n/a	n/a
9	CEBPB	chr18:9619942-9620341	A549	lung:	n/a	chr18:9620226-9620237
10	CEBPB	chr18:9620049-9620425	Hela-S3	cervix:	n/a	chr18:9620226-9620237
11	HDAC2	chr18:9619984-9620340	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9612628..9617891-chr18:9619605..9623342,5	MCF-7	breast:
2	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
RNU6-903P	TF binding region
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11081489	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1662885	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1787165	0.81[ASN][1000 genomes]
rs1787166	0.89[ASN][1000 genomes]
rs2028661	1.00[ASN][1000 genomes]
rs2028662	1.00[ASN][1000 genomes]
rs2028663	1.00[ASN][1000 genomes]
rs2289684	1.00[ASN][1000 genomes]
rs2903504	0.87[EUR][1000 genomes]
rs329002	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329004	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329008	0.89[ASN][1000 genomes]
rs329023	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs329024	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329033	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444634	1.00[ASN][1000 genomes]
rs407530	0.89[ASN][1000 genomes]
rs428598	1.00[ASN][1000 genomes]
rs583306	1.00[ASN][1000 genomes]
rs586544	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs589559	0.89[ASN][1000 genomes]
rs599861	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610564	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62088919	0.90[AMR][1000 genomes]
rs62088920	0.81[ASN][1000 genomes]
rs638578	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs667695	1.00[ASN][1000 genomes]
rs671339	1.00[ASN][1000 genomes]
rs677461	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs680478	1.00[ASN][1000 genomes]
rs681297	1.00[ASN][1000 genomes]
rs683319	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs694861	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234128	0.89[ASN][1000 genomes]
rs8088389	0.86[ASN][1000 genomes]
rs8090919	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9807577	0.90[ASN][1000 genomes]
rs9807604	1.00[ASN][1000 genomes]
rs9950583	0.89[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1820504	chr18:9614250-9621841	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1801741	chr18:9614451-9621841	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv521175	chr18:9615851-9623052	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
2	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9617400-9625400	Weak transcription	HMEC	breast
5	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:9618800-9620200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr18:9619200-9620200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:9619200-9620200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9619200-9620200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:9619200-9620200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:9619200-9620200	Flanking Active TSS	HUVEC	blood vessel
12	chr18:9619200-9620200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr18:9619200-9620200	Enhancers	NHEK	skin
14	chr18:9619200-9620200	Enhancers	NHLF	lung
15	chr18:9619400-9620200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr18:9619400-9620200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:9619400-9620200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:9619600-9620200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr18:9619600-9620200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:9619600-9620200	Enhancers	HSMM	muscle
21	chr18:9619600-9620200	Enhancers	Osteobl	bone
22	chr18:9619600-9620400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:9619800-9620200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:9619800-9620200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:9619800-9620200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr18:9619800-9620200	Enhancers	A549	lung
27	chr18:9619800-9627400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:9620000-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:9620000-9625600	Weak transcription	Hela-S3	cervix
30	chr18:9620000-9627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr18:9620000-9627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial

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