Variant report

Variant	rs56391085
Chromosome Location	chr12:121188825-121188826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121186636..121188144-chr12:121188175..121190452,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs2138250	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2393795	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs3850521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55645249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55980956	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56175661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56178989	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	0.83[AFR][1000 genomes]
rs56284009	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56366632	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73214898	0.86[AMR][1000 genomes]
rs73217009	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73222778	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	0.83[AFR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73224303	1.00[ASN][1000 genomes]
rs73224309	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	1.00[ASN][1000 genomes]
rs73224318	1.00[ASN][1000 genomes]
rs73224321	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[ASN][1000 genomes]
rs73224335	1.00[ASN][1000 genomes]
rs73224338	1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	1.00[ASN][1000 genomes]
rs73224342	1.00[ASN][1000 genomes]
rs73225003	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[ASN][1000 genomes]
rs73226267	1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73227016	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227026	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73229157	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	0.83[AFR][1000 genomes];1.00[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186200-121189200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
9	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:121187200-121189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121187400-121189400	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links