Variant report

Variant	rs7993121
Chromosome Location	chr13:76263975-76263976
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	chr13:76263691..76265417-chr13:76278168..76279745,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10220193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841001	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841544	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859014	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35791631	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67810171	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991894	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002308	1.00[ASN][1000 genomes]
rs9593118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600526	0.87[AMR][1000 genomes];0.97[EUR][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	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
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76259400-76273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:76259600-76264800	Weak transcription	Hela-S3	cervix
5	chr13:76259600-76269800	Weak transcription	Fetal Heart	heart
6	chr13:76259600-76294400	Weak transcription	Ovary	ovary
7	chr13:76259800-76265400	Weak transcription	A549	lung
8	chr13:76259800-76274600	Weak transcription	Aorta	Aorta
9	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:76260000-76265400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:76260000-76271000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:76260200-76268800	Weak transcription	HMEC	breast
13	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:76261200-76264400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:76261400-76264800	Weak transcription	NH-A	brain
17	chr13:76261400-76265400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:76261400-76267000	Weak transcription	HSMMtube	muscle
19	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
20	chr13:76262600-76264200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:76262600-76272000	Genic enhancers	Osteobl	bone
22	chr13:76263000-76265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:76263200-76264600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:76263200-76264600	Genic enhancers	NHDF-Ad	bronchial
25	chr13:76263400-76264600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:76263400-76264800	Enhancers	NHLF	lung
27	chr13:76263400-76265800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:76263400-76266600	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr13:76263600-76264400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:76263800-76265400	Weak transcription	Fetal Brain Male	brain
31	chr13:76263800-76265400	Weak transcription	HSMM	muscle

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