Variant report

Variant	rs4495444
Chromosome Location	chr8:131464660-131464661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131454459..131461089-chr8:131462437..131468873,11	MCF-7	breast:
2	chr8:131454950..131456804-chr8:131463312..131466005,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs35599999	0.84[EUR][1000 genomes]
rs4316172	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4319114	0.91[EUR][1000 genomes]
rs4404934	0.87[EUR][1000 genomes]
rs4504653	0.91[EUR][1000 genomes]
rs4629883	0.91[EUR][1000 genomes]
rs6994477	1.00[GIH][hapmap]
rs7005271	1.00[GIH][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131458200-131465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131459000-131468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:131459200-131465600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:131459200-131468200	Weak transcription	Fetal Heart	heart
5	chr8:131461400-131470000	Weak transcription	HMEC	breast
6	chr8:131462000-131468600	Weak transcription	NHLF	lung
7	chr8:131462200-131468800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:131463200-131465400	Enhancers	HUVEC	blood vessel
9	chr8:131463600-131465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:131463800-131464800	Enhancers	NH-A	brain
11	chr8:131464000-131464800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:131464000-131464800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:131464000-131464800	Enhancers	Spleen	Spleen
14	chr8:131464000-131464800	Enhancers	Osteobl	bone
15	chr8:131464000-131465200	Enhancers	Fetal Kidney	kidney
16	chr8:131464000-131465400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:131464000-131465800	Enhancers	Fetal Lung	lung
18	chr8:131464000-131465800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:131464000-131466000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:131464000-131466000	Enhancers	Fetal Stomach	stomach
21	chr8:131464200-131465000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:131464200-131465600	Weak transcription	HSMMtube	muscle
23	chr8:131464400-131465000	Enhancers	GM12878-XiMat	blood
24	chr8:131464400-131465600	Weak transcription	Placenta	Placenta
25	chr8:131464400-131468600	Weak transcription	NHDF-Ad	bronchial
26	chr8:131464400-131468800	Weak transcription	HSMM	muscle
27	chr8:131464600-131465200	Enhancers	Adipose Nuclei	Adipose
28	chr8:131464600-131465800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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