Variant report

Variant	rs1974974
Chromosome Location	chr8:69943337-69943338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69938259..69942128-chr8:69942869..69947061,5	MCF-7	breast:
2	chr8:69942123..69945264-chr8:69951482..69954001,3	MCF-7	breast:
3	chr8:69942324..69944829-chr8:70400082..70401628,2	MCF-7	breast:
4	chr8:69763017..69766748-chr8:69941633..69945462,3	MCF-7	breast:
5	chr8:69739790..69742259-chr8:69942663..69944315,2	MCF-7	breast:
6	chr8:69942113..69944489-chr8:70020530..70022071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10093389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549168	0.90[JPT][hapmap]
rs12675576	1.00[JPT][hapmap]
rs16935336	1.00[JPT][hapmap]
rs16935360	0.81[ASN][1000 genomes]
rs16935363	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2912498	0.80[YRI][hapmap]
rs4737935	1.00[JPT][hapmap]
rs4737936	0.81[ASN][1000 genomes]
rs6990230	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999385	0.81[ASN][1000 genomes]
rs6999406	0.81[ASN][1000 genomes]
rs73683801	0.81[ASN][1000 genomes]
rs7825661	0.81[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	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69939000-69943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:69941000-69943600	Weak transcription	NHEK	skin
3	chr8:69941000-69951600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:69941800-69946000	Weak transcription	Aorta	Aorta
5	chr8:69942000-69947200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:69942600-69943400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:69942600-69943400	Enhancers	Fetal Heart	heart
8	chr8:69942600-69947800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:69942800-69944000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:69942800-69944000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:69942800-69944200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:69942800-69948000	Enhancers	Osteobl	bone
13	chr8:69943000-69943800	Enhancers	NHLF	lung
14	chr8:69943000-69944000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:69943000-69944600	Genic enhancers	HSMM	muscle
16	chr8:69943000-69945800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:69943200-69943600	Weak transcription	Fetal Lung	lung
18	chr8:69943200-69943800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:69943200-69944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:69943200-69944600	Enhancers	NHDF-Ad	bronchial
21	chr8:69943200-69945400	Weak transcription	Fetal Stomach	stomach
22	chr8:69943200-69945800	Weak transcription	Colon Smooth Muscle	Colon

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