Variant report

Variant	rs57510086
Chromosome Location	chr12:122130155-122130156
allele	C/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
2	chr12:122124453..122127425-chr12:122127713..122130672,3	K562	blood:
3	chr12:122124832..122127542-chr12:122129875..122131876,2	MCF-7	breast:
4	chr12:122129758..122132127-chr12:122239389..122241575,2	MCF-7	breast:
5	chr12:122129486..122132177-chr12:122133485..122135304,3	K562	blood:
6	chr12:122123715..122126577-chr12:122127730..122130596,2	K562	blood:
7	chr12:122129949..122131522-chr12:122133485..122135302,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs28429133	1.00[AMR][1000 genomes]
rs34753496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802359	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56740297	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58298336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59126522	1.00[AMR][1000 genomes]
rs59247553	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59378678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59832608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59867893	1.00[AMR][1000 genomes]
rs60606431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61357438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7968036	1.00[AMR][1000 genomes]
rs7968374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974950	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:122125600-122135200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122129200-122130200	Weak transcription	Pancreas	Pancrea
7	chr12:122129400-122131000	Weak transcription	Fetal Heart	heart
8	chr12:122129400-122133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:122129400-122135000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:122129400-122139800	Weak transcription	A549	lung
11	chr12:122129600-122135200	Weak transcription	Osteobl	bone

Quick Search:

Input of quick search could be:

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

what's new

Quick links