Variant report

Variant	rs6727895
Chromosome Location	chr2:134246305-134246306
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	chr2:134245342..134247871-chr2:134256827..134259265,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172908	1.00[EUR][1000 genomes]
rs10176630	1.00[EUR][1000 genomes]
rs10179509	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10180776	1.00[EUR][1000 genomes]
rs10182352	1.00[EUR][1000 genomes]
rs10204302	1.00[EUR][1000 genomes]
rs11904353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13383175	1.00[EUR][1000 genomes]
rs13383603	1.00[EUR][1000 genomes]
rs13396221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13402934	1.00[EUR][1000 genomes]
rs13406195	1.00[EUR][1000 genomes]
rs13406470	1.00[EUR][1000 genomes]
rs13410388	1.00[EUR][1000 genomes]
rs13419194	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13432659	1.00[EUR][1000 genomes]
rs1897430	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1897431	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28420171	1.00[EUR][1000 genomes]
rs28634361	1.00[EUR][1000 genomes]
rs6718180	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:134235000-134247400	Weak transcription	Left Ventricle	heart
2	chr2:134239000-134247400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:134239600-134247600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:134240000-134262400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:134241800-134247200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:134244200-134250400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134244800-134252200	Weak transcription	Fetal Kidney	kidney
8	chr2:134245000-134247200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:134245200-134247200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:134245200-134247200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:134245200-134253000	Weak transcription	Fetal Stomach	stomach
12	chr2:134245400-134247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:134245400-134248600	Enhancers	Liver	Liver
14	chr2:134245400-134251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:134245400-134253000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:134245600-134246800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:134245600-134247200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:134245600-134252800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:134246000-134247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:134246200-134246800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:134246200-134247200	Weak transcription	NHDF-Ad	bronchial
22	chr2:134246200-134247400	Weak transcription	Fetal Muscle Leg	muscle

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