Variant report

Variant	rs9643254
Chromosome Location	chr8:131465722-131465723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131464873..131467806-chr8:131470605..131472782,2	K562	blood:
2	chr8:131454459..131461089-chr8:131462437..131468873,11	MCF-7	breast:
3	chr8:131432091..131434122-chr8:131465093..131468070,2	MCF-7	breast:
4	chr8:131454950..131456804-chr8:131463312..131466005,3	MCF-7	breast:
5	chr8:131464964..131467866-chr8:131510024..131511695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16904263	0.81[GIH][hapmap];0.89[JPT][hapmap]
rs17289507	0.83[ASN][1000 genomes]
rs67552634	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68113520	0.81[EUR][1000 genomes]
rs73427441	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73427442	0.81[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131459000-131468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:131459200-131468200	Weak transcription	Fetal Heart	heart
3	chr8:131461400-131470000	Weak transcription	HMEC	breast
4	chr8:131462000-131468600	Weak transcription	NHLF	lung
5	chr8:131462200-131468800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:131463600-131465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:131464000-131465800	Enhancers	Fetal Lung	lung
8	chr8:131464000-131465800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:131464000-131466000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:131464000-131466000	Enhancers	Fetal Stomach	stomach
11	chr8:131464400-131468600	Weak transcription	NHDF-Ad	bronchial
12	chr8:131464400-131468800	Weak transcription	HSMM	muscle
13	chr8:131464600-131465800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:131464800-131468600	Weak transcription	NH-A	brain
15	chr8:131464800-131468600	Weak transcription	Osteobl	bone
16	chr8:131464800-131470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:131465400-131466200	Enhancers	GM12878-XiMat	blood
18	chr8:131465400-131486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:131465600-131466000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:131465600-131466200	Enhancers	Brain Germinal Matrix	brain
21	chr8:131465600-131466200	Enhancers	Fetal Muscle Leg	muscle
22	chr8:131465600-131466400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:131465600-131466400	Enhancers	Placenta	Placenta
24	chr8:131465600-131466600	Enhancers	HSMMtube	muscle

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