Variant report

Variant	rs73003129
Chromosome Location	chr2:134265538-134265539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
2	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:
3	chr2:133428056..133430073-chr2:134262695..134265949,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10200825	1.00[AMR][1000 genomes]
rs13401160	1.00[AMR][1000 genomes]
rs13426165	1.00[AMR][1000 genomes]
rs16826729	1.00[AMR][1000 genomes]
rs56861595	1.00[AMR][1000 genomes]
rs58896894	1.00[AMR][1000 genomes]
rs60303968	1.00[AMR][1000 genomes]
rs60532004	1.00[AMR][1000 genomes]
rs60818895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430430	1.00[AMR][1000 genomes]
rs6719987	1.00[AMR][1000 genomes]
rs72992312	1.00[AMR][1000 genomes]
rs72994285	1.00[AMR][1000 genomes]
rs72994288	1.00[AMR][1000 genomes]
rs72996138	1.00[AMR][1000 genomes]
rs73001188	1.00[AMR][1000 genomes]
rs7576744	1.00[AMR][1000 genomes]
rs7584046	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr2:134259000-134265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134261400-134265800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134261400-134265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:134262000-134267600	Enhancers	Brain Germinal Matrix	brain
5	chr2:134262600-134267000	Weak transcription	Placenta	Placenta
6	chr2:134262600-134267400	Weak transcription	Esophagus	oesophagus
7	chr2:134263000-134265600	Weak transcription	Fetal Brain Male	brain
8	chr2:134263200-134268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:134263800-134265800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:134263800-134265800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:134263800-134266000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:134264000-134266200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:134264200-134268200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:134264400-134267600	Enhancers	Brain Substantia Nigra	brain
15	chr2:134264600-134266800	Enhancers	Fetal Brain Female	brain
16	chr2:134264600-134267000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:134264800-134267600	Enhancers	Brain Hippocampus Middle	brain
18	chr2:134265000-134266800	Enhancers	Brain Anterior Caudate	brain
19	chr2:134265000-134267000	Weak transcription	HMEC	breast
20	chr2:134265000-134267000	Weak transcription	NHEK	skin
21	chr2:134265000-134267200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:134265200-134267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:134265200-134267400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:134265400-134265800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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