Variant report

Variant	rs833835
Chromosome Location	chr12:49361150-49361151
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49360559..49362798-chr12:49364953..49366917,2	MCF-7	breast:
2	chr12:49359876..49362319-chr12:49370259..49373229,2	MCF-7	breast:
3	chr12:49347357..49351835-chr12:49360389..49366684,9	MCF-7	breast:
4	chr12:49358441..49359999-chr12:49360214..49362167,2	K562	blood:
5	chr12:49349930..49353398-chr12:49358760..49362252,4	K562	blood:
6	chr12:49358441..49360216-chr12:49360273..49362167,2	K562	blood:
7	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
8	chr12:49359291..49360903-chr12:49360915..49363419,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000169884	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000125084	Chromatin interaction
ENSG00000272822	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11168810	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12122	1.00[EUR][1000 genomes]
rs12829682	0.86[EUR][1000 genomes]
rs2694841	1.00[EUR][1000 genomes]
rs41291977	0.86[EUR][1000 genomes]
rs708242	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs71464944	1.00[EUR][1000 genomes]
rs7305811	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7967350	0.89[AFR][1000 genomes]
rs833823	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs833825	0.82[AFR][1000 genomes]
rs833829	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs833834	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs941193	0.88[AFR][1000 genomes];0.86[EUR][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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49351800-49365000	Weak transcription	Right Atrium	heart
2	chr12:49355400-49363000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:49356000-49361800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:49356000-49362000	Weak transcription	HSMM	muscle
5	chr12:49359400-49361600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:49360400-49363000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:49360600-49361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:49360600-49361600	Weak transcription	HSMMtube	muscle
9	chr12:49360600-49361800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:49360600-49361800	Weak transcription	GM12878-XiMat	blood
11	chr12:49360600-49362400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:49360800-49363000	Weak transcription	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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