Variant report

Variant	rs6430445
Chromosome Location	chr2:134470300-134470301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134468524..134472255-chr2:134473373..134475498,3	MCF-7	breast:
2	chr2:134469703..134471352-chr2:134471978..134474907,2	MCF-7	breast:
3	chr2:134463568..134466020-chr2:134468723..134471299,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16828766	0.88[AFR][1000 genomes]
rs16829423	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs34979285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57028673	1.00[EUR][1000 genomes]
rs58799403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59471650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59785320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61290996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61465743	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745294	1.00[EUR][1000 genomes]
rs6753469	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757963	1.00[EUR][1000 genomes]
rs73002520	0.85[AMR][1000 genomes]
rs73003855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003900	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005709	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005714	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005734	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007661	1.00[EUR][1000 genomes]
rs73957243	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73960110	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584447	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589010	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134467000-134472400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134467400-134472800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:134468000-134477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:134469200-134474600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:134469400-134474600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:134469400-134475400	Weak transcription	Brain Substantia Nigra	brain

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