Variant report

Variant	rs8002308
Chromosome Location	chr13:76261957-76261958
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76259690..76262311-chr13:77554320..77556191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233873	Chromatin interaction

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[ASN][1000 genomes]
rs10220197	1.00[ASN][1000 genomes]
rs11841001	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11841544	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34859014	0.81[AFR][1000 genomes]
rs35791631	0.81[AFR][1000 genomes]
rs67810171	1.00[ASN][1000 genomes]
rs7991894	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7993121	1.00[ASN][1000 genomes]
rs9593118	1.00[ASN][1000 genomes]
rs9600526	0.81[AFR][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:30 , 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	chr13:76250200-76262800	Weak transcription	Fetal Brain Male	brain
4	chr13:76259400-76273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:76259600-76264800	Weak transcription	Hela-S3	cervix
6	chr13:76259600-76269800	Weak transcription	Fetal Heart	heart
7	chr13:76259600-76294400	Weak transcription	Ovary	ovary
8	chr13:76259800-76265400	Weak transcription	A549	lung
9	chr13:76259800-76274600	Weak transcription	Aorta	Aorta
10	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:76260000-76262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:76260000-76262200	Genic enhancers	HSMM	muscle
13	chr13:76260000-76265400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:76260000-76271000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:76260200-76262200	Genic enhancers	Muscle Satellite Cultured Cells	--
16	chr13:76260200-76268800	Weak transcription	HMEC	breast
17	chr13:76260400-76263600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:76261200-76263000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:76261200-76263400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76261200-76263400	Weak transcription	NHLF	lung
23	chr13:76261200-76264400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:76261400-76262600	Enhancers	Osteobl	bone
25	chr13:76261400-76263400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:76261400-76264800	Weak transcription	NH-A	brain
27	chr13:76261400-76265400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:76261400-76267000	Weak transcription	HSMMtube	muscle
29	chr13:76261600-76262400	Weak transcription	NHDF-Ad	bronchial
30	chr13:76261600-76262600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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