Variant report

Variant	rs832643
Chromosome Location	chr2:182610060-182610061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182609276..182611148-chr2:182952196..182955107,2	MCF-7	breast:
2	chr2:182609007..182611805-chr2:182613664..182615671,2	MCF-7	breast:
3	chr2:182607527..182610447-chr2:182747720..182749531,2	MCF-7	breast:
4	chr2:182606478..182612379-chr2:182941539..182945973,8	MCF-7	breast:
5	chr2:182607060..182610718-chr2:182648609..182651704,3	MCF-7	breast:
6	chr2:182608011..182609726-chr2:182609960..182611902,2	MCF-7	breast:
7	chr2:182601728..182612786-chr2:182754371..182769481,60	MCF-7	breast:
8	chr2:182608906..182610576-chr2:182750381..182752530,2	MCF-7	breast:
9	chr2:182607754..182610129-chr2:182643421..182645171,2	MCF-7	breast:
10	chr2:182607629..182610219-chr2:182786468..182788994,2	MCF-7	breast:
11	chr2:182608371..182610484-chr2:182990865..182992753,2	MCF-7	breast:
12	chr2:182601328..182613741-chr2:182753153..182773539,79	MCF-7	breast:
13	chr2:182604086..182610331-chr2:182940196..182944056,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000265129	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10175898	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188644	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497584	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613662	1.00[ASN][1000 genomes]
rs12616753	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616809	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12617923	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619962	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623595	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996195	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1372130	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441158	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441159	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867481	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867483	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867485	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867486	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867487	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867489	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867490	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867492	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583004	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583005	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696332	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2696333	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2696338	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696340	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696341	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696342	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2696346	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394061	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464322	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589860	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2859677	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654292	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718983	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950649	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57227873	0.96[ASN][1000 genomes]
rs58618231	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590839	0.84[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182608600-182612400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182609200-182615600	Weak transcription	Hela-S3	cervix

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