Variant report

Variant	rs11171939
Chromosome Location	chr12:57084122-57084123
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:57083971-57084276	GM12878	blood:	n/a	n/a
2	ZNF384	chr12:57082872-57084341	K562	blood:	n/a	n/a
3	GTF3C2	chr12:57083030-57084155	K562	blood:	n/a	n/a
4	ELF1	chr12:57083658-57084146	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57026160..57032326-chr12:57079667..57084551,17	K562	blood:
2	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
3	chr12:57037950..57041719-chr12:57080496..57084678,10	K562	blood:
4	chr12:57027161..57032164-chr12:57080546..57084524,13	MCF-7	breast:
5	chr12:57022974..57025489-chr12:57082990..57085846,2	K562	blood:
6	chr12:57078475..57085183-chr12:57112918..57121559,38	K562	blood:
7	chr12:57080587..57084416-chr12:57143537..57149136,7	MCF-7	breast:
8	chr12:57027023..57035553-chr12:57079936..57085201,18	MCF-7	breast:
9	chr12:57083216..57084754-chr12:57482270..57484248,2	K562	blood:
10	chr12:57037416..57042033-chr12:57076746..57084678,17	K562	blood:
11	chr12:57080718..57083642-chr12:57083960..57087644,5	MCF-7	breast:
12	chr12:57081853..57084367-chr12:57144672..57147569,5	K562	blood:
13	chr12:57028651..57034442-chr12:57080412..57084452,17	K562	blood:
14	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
15	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
PTGES3	TF binding region
ENSG00000166886	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000076108	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10219697	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11171906	1.00[EUR][1000 genomes]
rs11171912	1.00[EUR][1000 genomes]
rs11171913	1.00[EUR][1000 genomes]
rs11472	1.00[EUR][1000 genomes]
rs12306723	1.00[EUR][1000 genomes]
rs12308290	1.00[EUR][1000 genomes]
rs12313811	1.00[EUR][1000 genomes]
rs12318580	1.00[EUR][1000 genomes]
rs12321709	1.00[EUR][1000 genomes]
rs2230580	1.00[EUR][1000 genomes]
rs73335264	1.00[EUR][1000 genomes]
rs73335265	1.00[EUR][1000 genomes]
rs73335300	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57078800-57084200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:57081600-57084200	Active TSS	A549	lung
3	chr12:57082800-57084200	Active TSS	K562	blood
4	chr12:57083400-57088000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:57083400-57088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:57083400-57089000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:57083400-57089000	Weak transcription	Psoas Muscle	Psoas
8	chr12:57083400-57089200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:57083800-57084400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:57083800-57084400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:57083800-57088800	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:57083800-57090200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:57083800-57105200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:57084000-57085800	Weak transcription	GM12878-XiMat	blood
15	chr12:57084000-57094400	Weak transcription	Fetal Thymus	thymus

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

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