Variant report

Variant	rs12996195
Chromosome Location	chr2:182601448-182601449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10175898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10188644	0.87[ASN][1000 genomes]
rs10497584	0.87[ASN][1000 genomes]
rs12613662	0.87[ASN][1000 genomes]
rs12616753	0.84[ASN][1000 genomes]
rs12616809	0.84[ASN][1000 genomes]
rs12617923	0.87[ASN][1000 genomes]
rs12619962	0.87[ASN][1000 genomes]
rs12623595	0.87[ASN][1000 genomes]
rs1372130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1441158	0.87[ASN][1000 genomes]
rs1441159	0.87[ASN][1000 genomes]
rs16867481	0.87[ASN][1000 genomes]
rs16867483	0.87[ASN][1000 genomes]
rs16867485	0.87[ASN][1000 genomes]
rs16867486	0.87[ASN][1000 genomes]
rs16867487	0.82[ASN][1000 genomes]
rs16867489	0.87[ASN][1000 genomes]
rs16867490	0.87[ASN][1000 genomes]
rs16867491	0.87[ASN][1000 genomes]
rs16867492	0.87[ASN][1000 genomes]
rs2583004	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2583005	0.87[ASN][1000 genomes]
rs2696332	0.84[ASN][1000 genomes]
rs2696333	0.84[ASN][1000 genomes]
rs2696338	0.87[ASN][1000 genomes]
rs2696340	0.87[ASN][1000 genomes]
rs2696341	0.87[ASN][1000 genomes]
rs2696342	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2696346	1.00[AMR][1000 genomes]
rs28394061	0.87[ASN][1000 genomes]
rs28464322	0.87[ASN][1000 genomes]
rs28589860	0.86[ASN][1000 genomes]
rs2859677	0.87[ASN][1000 genomes]
rs28654292	0.87[ASN][1000 genomes]
rs28718983	0.87[ASN][1000 genomes]
rs2950649	0.87[ASN][1000 genomes]
rs57227873	0.84[ASN][1000 genomes]
rs58618231	0.87[ASN][1000 genomes]
rs832643	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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