Variant report

Variant	rs7648216
Chromosome Location	chr3:142605780-142605781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142591058..142593405-chr3:142604358..142606915,2	K562	blood:
2	chr3:142545978..142547931-chr3:142603627..142606168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240950	Chromatin interaction

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

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

rs_ID	r²[population]
rs1036691	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1457684	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463559	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2125125	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2581619	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2581620	0.95[EUR][1000 genomes]
rs2581629	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2581635	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2581636	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2581637	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608070	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608078	0.95[EUR][1000 genomes]
rs2608079	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2707973	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707975	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707983	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707985	0.91[EUR][1000 genomes]
rs2707991	0.95[EUR][1000 genomes]
rs2707996	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4683435	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6778732	0.85[AMR][1000 genomes];0.97[EUR][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv437342	chr3:142605233-142622834	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142586000-142606600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:142590600-142606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:142601000-142606000	Weak transcription	Right Atrium	heart
4	chr3:142603400-142605800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:142603400-142607000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:142603600-142607000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:142604000-142606600	Weak transcription	Liver	Liver
8	chr3:142604200-142605800	Enhancers	K562	blood
9	chr3:142604400-142606600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:142604800-142606600	Weak transcription	Right Ventricle	heart
11	chr3:142605000-142606000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:142605000-142607000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:142605200-142606800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:142605200-142607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:142605400-142606400	Enhancers	Hela-S3	cervix
16	chr3:142605400-142606800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:142605400-142606800	Enhancers	Osteobl	bone
18	chr3:142605400-142607200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:142605600-142605800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:142605600-142605800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr3:142605600-142606000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:142605600-142606200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:142605600-142606200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:142605600-142606200	Flanking Active TSS	A549	lung
25	chr3:142605600-142606200	Flanking Active TSS	NH-A	brain
26	chr3:142605600-142607000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:142605600-142607000	Enhancers	NHEK	skin

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