Variant report

Variant	rs11786449
Chromosome Location	chr8:125950297-125950298
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125948928..125951247-chr8:125955414..125958110,2	MCF-7	breast:
2	chr8:125938234..125940931-chr8:125949663..125952183,2	MCF-7	breast:
3	chr8:125928560..125931491-chr8:125949569..125951872,2	MCF-7	breast:
4	chr8:125825851..125829198-chr8:125950064..125952936,3	K562	blood:
5	chr8:125582029..125582893-chr8:125950029..125951015,2	MCF-7	breast:
6	chr8:125941899..125943722-chr8:125948605..125950598,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-2	chr8:125949950-125951274	XLOC_007207
2	lnc-KIAA0196-2	chr8:125949846-125950590	NONHSAT128866

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11779177	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs13273002	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16900090	0.81[ASN][1000 genomes]
rs16900098	0.85[ASN][1000 genomes]
rs35278050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4409410	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs5012401	0.88[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60275472	0.82[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125937600-125951600	Weak transcription	Right Atrium	heart
2	chr8:125948800-125950400	Enhancers	Lung	lung
3	chr8:125948800-125952000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125949000-125951400	Enhancers	Placenta	Placenta
5	chr8:125949200-125954000	Weak transcription	Left Ventricle	heart
6	chr8:125949400-125950600	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:125949400-125951600	Enhancers	K562	blood
8	chr8:125949600-125950800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:125949600-125951800	Weak transcription	Brain Germinal Matrix	brain
10	chr8:125949800-125950400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:125949800-125951600	Weak transcription	Spleen	Spleen
12	chr8:125950000-125950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:125950000-125954200	Weak transcription	Right Ventricle	heart
14	chr8:125950000-125958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:125950200-125953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125950200-125954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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