Variant report

Variant	rs1983818
Chromosome Location	chr13:76218788-76218789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76111172..76113828-chr13:76216732..76219356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10507833	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11617360	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427985	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12430746	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1575478	0.85[AFR][1000 genomes]
rs1924176	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281763	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2281764	0.85[ASN][1000 genomes]
rs34222504	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34512564	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34939695	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35915164	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61958092	0.84[AMR][1000 genomes]
rs61958094	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9565180	0.84[AMR][1000 genomes]
rs9593111	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9593112	0.84[AMR][1000 genomes]
rs9600515	0.85[AMR][1000 genomes];0.82[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
2	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:76211600-76235600	Weak transcription	Ovary	ovary
4	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
5	chr13:76211800-76218800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
7	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
8	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
9	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:76212400-76240400	Weak transcription	HMEC	breast
11	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
13	chr13:76213000-76221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
15	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
16	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:76215600-76219800	Weak transcription	HSMMtube	muscle
18	chr13:76215600-76220000	Weak transcription	GM12878-XiMat	blood
19	chr13:76215600-76223600	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76217000-76220000	Genic enhancers	NHDF-Ad	bronchial
22	chr13:76217200-76219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:76217200-76222000	Genic enhancers	HSMM	muscle
24	chr13:76217400-76223800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:76217600-76218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:76217600-76219800	Weak transcription	NHLF	lung
27	chr13:76218200-76218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:76218200-76219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:76218200-76219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:76218200-76219800	Genic enhancers	Osteobl	bone
31	chr13:76218400-76218800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:76218600-76220000	Strong transcription	NH-A	brain

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