Variant report

Variant	rs9973019
Chromosome Location	chr18:9055199-9055200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8696479..8697390-chr18:9054928..9055866,2	K562	blood:
2	chr18:9049343..9052176-chr18:9054844..9057806,2	MCF-7	breast:
3	chr18:8981074..8983974-chr18:9054070..9056499,2	MCF-7	breast:
4	chr18:9007490..9009777-chr18:9053664..9055896,2	K562	blood:
5	chr18:8707023..8707545-chr18:9054954..9055598,2	MCF-7	breast:
6	chr18:9016661..9019620-chr18:9053656..9055788,2	K562	blood:
7	chr18:8988063..8988947-chr18:9054783..9055892,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168502	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10468793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11662294	1.00[ASN][1000 genomes]
rs11664578	0.93[ASN][1000 genomes]
rs11665492	1.00[ASN][1000 genomes]
rs13381712	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13381737	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16954740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954743	1.00[ASN][1000 genomes]
rs16954746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940459	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1940460	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61528529	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506637	1.00[ASN][1000 genomes]
rs6506638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7228816	1.00[ASN][1000 genomes]
rs8093805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9973018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9054000-9056000	Enhancers	NHDF-Ad	bronchial
2	chr18:9054200-9055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:9054200-9059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:9054400-9056200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:9054400-9056400	Enhancers	NHEK	skin
6	chr18:9054400-9056600	Enhancers	HMEC	breast
7	chr18:9054600-9056000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:9054600-9056000	Enhancers	K562	blood
9	chr18:9054600-9056000	Enhancers	NHLF	lung
10	chr18:9054600-9056400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:9054600-9056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:9054600-9056600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:9054600-9057000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:9054800-9056000	Weak transcription	Esophagus	oesophagus
15	chr18:9055000-9055400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:9055000-9055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:9055000-9055800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr18:9055000-9056000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:9055000-9056000	Enhancers	Liver	Liver
20	chr18:9055000-9056000	Enhancers	A549	lung
21	chr18:9055000-9056000	Enhancers	Hela-S3	cervix
22	chr18:9055000-9056000	Enhancers	HUVEC	blood vessel
23	chr18:9055000-9056000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr18:9055000-9056000	Enhancers	Osteobl	bone

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