Variant report

Variant	rs60818895
Chromosome Location	chr2:134264188-134264189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134193206..134195489-chr2:134262827..134264976,2	MCF-7	breast:
2	chr2:134083491..134086031-chr2:134262913..134265457,2	MCF-7	breast:
3	chr2:134019056..134021492-chr2:134262374..134264487,2	MCF-7	breast:
4	chr2:134262296..134264688-chr2:134267619..134270356,2	MCF-7	breast:
5	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
6	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:
7	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]
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]
rs73003129	1.00[AFR][1000 genomes];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:29 , 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	chr2:134260400-134265200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:134260400-134265400	Enhancers	Fetal Heart	heart
4	chr2:134261400-134265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:134261400-134265800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:134261400-134265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:134262000-134265000	Enhancers	NHEK	skin
8	chr2:134262000-134265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:134262000-134267600	Enhancers	Brain Germinal Matrix	brain
10	chr2:134262600-134265000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:134262600-134267000	Weak transcription	Placenta	Placenta
12	chr2:134262600-134267400	Weak transcription	Esophagus	oesophagus
13	chr2:134263000-134265600	Weak transcription	Fetal Brain Male	brain
14	chr2:134263200-134264600	Weak transcription	Fetal Brain Female	brain
15	chr2:134263200-134268600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:134263400-134264600	Weak transcription	Left Ventricle	heart
17	chr2:134263400-134265000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:134263600-134264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:134263600-134264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:134263800-134264200	Weak transcription	HMEC	breast
21	chr2:134263800-134264800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:134263800-134265800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:134263800-134265800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:134263800-134266000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:134264000-134264200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:134264000-134264400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:134264000-134264800	Enhancers	Right Atrium	heart
28	chr2:134264000-134265200	Enhancers	Right Ventricle	heart
29	chr2:134264000-134266200	Weak transcription	Brain Inferior Temporal Lobe	brain

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