Variant report

Variant	rs7518521
Chromosome Location	chr1:209761597-209761598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209760979..209762618-chr1:209766680..209769028,3	K562	blood:
2	chr1:209761488..209764424-chr1:209779291..209781957,2	K562	blood:
3	chr1:209717438..209719285-chr1:209759919..209762405,2	K562	blood:
4	chr1:209754757..209756261-chr1:209761476..209764305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008118	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11119310	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119311	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2003682	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2076223	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2076224	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2356933	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4433397	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4556360	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540544	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683256	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713073	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736137	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522730	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528476	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533785	0.81[ASN][1000 genomes]
rs7538805	0.89[EUR][1000 genomes]
rs7541558	0.89[ASN][1000 genomes]
rs926386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9429819	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs977441	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209758200-209763200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:209759000-209761600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:209759400-209761600	Enhancers	NH-A	brain
4	chr1:209759400-209762000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:209759400-209762000	Weak transcription	Left Ventricle	heart
6	chr1:209759400-209762200	Weak transcription	Spleen	Spleen
7	chr1:209759600-209762200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:209759600-209762600	Weak transcription	Ovary	ovary
9	chr1:209759600-209763200	Weak transcription	HSMMtube	muscle
10	chr1:209759600-209763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:209759800-209763200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:209759800-209763400	Enhancers	Hela-S3	cervix
13	chr1:209760000-209763600	Weak transcription	Fetal Brain Male	brain
14	chr1:209760200-209763800	Weak transcription	Brain Germinal Matrix	brain
15	chr1:209760400-209762000	Weak transcription	Brain Anterior Caudate	brain
16	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
17	chr1:209760800-209761600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:209760800-209761600	Bivalent Enhancer	Placenta	Placenta
19	chr1:209760800-209761800	Bivalent Enhancer	HUVEC	blood vessel
20	chr1:209760800-209761800	Enhancers	NHEK	skin
21	chr1:209761000-209761600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209761000-209761600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:209761000-209761600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:209761000-209761800	Enhancers	HMEC	breast
25	chr1:209761200-209761600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:209761400-209761800	Weak transcription	Brain Angular Gyrus	brain

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