Variant report

Variant	rs6472107
Chromosome Location	chr8:49782022-49782023
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	chr8:49780791..49782303-chr8:49784724..49787609,2	MCF-7	breast:
2	chr8:49777643..49779526-chr8:49780548..49782346,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10088413	1.00[AMR][1000 genomes]
rs10094086	1.00[AMR][1000 genomes]
rs10099006	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10099447	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100402	1.00[AMR][1000 genomes]
rs10100701	1.00[YRI][hapmap]
rs10103893	1.00[AMR][1000 genomes]
rs10104103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108968	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10504068	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16938362	1.00[AMR][1000 genomes]
rs16938537	1.00[AMR][1000 genomes]
rs16938559	1.00[ASW][hapmap]
rs16938602	1.00[YRI][hapmap]
rs16938740	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16938748	1.00[AMR][1000 genomes]
rs16938750	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16938756	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16938764	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16938765	1.00[AMR][1000 genomes]
rs16938767	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28377247	1.00[AMR][1000 genomes]
rs28404323	1.00[AMR][1000 genomes]
rs28477899	1.00[AMR][1000 genomes]
rs28496662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28602767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649400	1.00[AMR][1000 genomes]
rs28702592	1.00[AMR][1000 genomes]
rs28772946	1.00[AMR][1000 genomes]
rs28817008	1.00[YRI][hapmap]
rs56184941	1.00[AMR][1000 genomes]
rs57965549	1.00[AMR][1000 genomes]
rs60181153	1.00[AMR][1000 genomes]
rs60465098	1.00[AMR][1000 genomes]
rs61184099	1.00[AMR][1000 genomes]
rs6472052	1.00[AMR][1000 genomes]
rs6472053	1.00[AMR][1000 genomes]
rs6992694	1.00[AMR][1000 genomes]
rs7000393	1.00[AMR][1000 genomes]
rs73678167	1.00[AMR][1000 genomes]
rs73680707	1.00[AMR][1000 genomes]
rs73680710	1.00[AMR][1000 genomes]
rs73680711	1.00[AMR][1000 genomes]
rs73680714	1.00[AMR][1000 genomes]
rs73680715	1.00[AMR][1000 genomes]
rs73680718	1.00[AMR][1000 genomes]
rs73680720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680726	1.00[AMR][1000 genomes]
rs73680728	1.00[AMR][1000 genomes]
rs7825162	1.00[AMR][1000 genomes]
rs7826258	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7826724	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7838334	1.00[AMR][1000 genomes]
rs7839672	1.00[AMR][1000 genomes]
rs7842381	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9298065	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9657076	1.00[YRI][hapmap]
rs9886548	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49776800-49782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:49776800-49782400	Weak transcription	Fetal Brain Female	brain
3	chr8:49778400-49782400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:49779000-49782400	Weak transcription	Esophagus	oesophagus
5	chr8:49780200-49782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:49780600-49782400	Enhancers	NHEK	skin
9	chr8:49780600-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:49780600-49782800	Weak transcription	Spleen	Spleen
11	chr8:49780800-49782400	Weak transcription	Ovary	ovary
12	chr8:49781400-49786400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49781600-49782400	Enhancers	HMEC	breast
14	chr8:49781600-49787000	Enhancers	Fetal Brain Male	brain
15	chr8:49781800-49782400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:49781800-49782400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:49781800-49782400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr8:49781800-49782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:49781800-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:49782000-49782200	Bivalent Enhancer	Fetal Lung	lung
21	chr8:49782000-49782400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:49782000-49782400	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr8:49782000-49782400	Bivalent Enhancer	Fetal Kidney	kidney

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