Variant report

Variant	rs567479
Chromosome Location	chr18:10121102-10121103
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	KAP1	chr18:10120575-10121321	HEK293	kidney:	n/a	n/a
2	KAP1	chr18:10120688-10121227	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:10117260..10118940-chr18:10120849..10123635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265554	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11080387	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1292289	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12960702	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs480274	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs563115	0.81[ASN][1000 genomes]
rs566556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672984	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs687997	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs688794	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9949165	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[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	nsv518334	chr18:9994685-10132916	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1064540	chr18:9995045-10133804	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1058660	chr18:10006788-10130661	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10113800-10122000	Weak transcription	Lung	lung
2	chr18:10115200-10122800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:10115200-10131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:10116200-10122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:10117000-10122000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr18:10117200-10122400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:10119800-10122800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:10120200-10122400	Enhancers	NHDF-Ad	bronchial
9	chr18:10120400-10121800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:10120400-10121800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:10120400-10122000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:10120400-10122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:10120600-10121200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:10120600-10121200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:10120600-10121200	Enhancers	Esophagus	oesophagus
16	chr18:10120600-10121200	Enhancers	Placenta	Placenta
17	chr18:10120600-10121200	Enhancers	Left Ventricle	heart
18	chr18:10120600-10121200	Enhancers	Psoas Muscle	Psoas
19	chr18:10120600-10122800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:10120600-10123000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:10120600-10125000	Enhancers	Fetal Muscle Leg	muscle
22	chr18:10120800-10121400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:10120800-10121800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:10120800-10121800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr18:10120800-10123600	Enhancers	Adipose Nuclei	Adipose
26	chr18:10120800-10123600	Enhancers	Fetal Lung	lung
27	chr18:10121000-10121200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr18:10121000-10121400	Enhancers	Fetal Heart	heart
29	chr18:10121000-10121800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:10121000-10121800	Weak transcription	Right Atrium	heart
31	chr18:10121000-10121800	Weak transcription	Right Ventricle	heart
32	chr18:10121000-10122000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr18:10121000-10122200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:10121000-10122200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr18:10121000-10123000	Enhancers	Fetal Stomach	stomach

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