Variant report

Variant	rs58121065
Chromosome Location	chr8:130701853-130701854
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130698168..130701867-chr8:130706682..130711085,4	MCF-7	breast:
2	chr8:128745097..128750653-chr8:130701645..130707585,8	K562	blood:
3	chr8:130595589..130597194-chr8:130700231..130702653,2	K562	blood:
4	chr8:130696204..130698352-chr8:130701733..130703322,2	K562	blood:
5	chr8:130700888..130706431-chr8:130718980..130724092,7	K562	blood:
6	chr8:130700584..130702961-chr8:130710020..130711748,2	MCF-7	breast:
7	chr8:130688486..130691516-chr8:130701686..130704518,3	K562	blood:
8	chr8:130701843..130703503-chr8:130719583..130721644,2	K562	blood:
9	chr15:70582586..70584161-chr8:130701217..130702945,2	MCF-7	breast:
10	chr8:128749024..128750653-chr8:130701645..130703489,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction
ENSG00000249375	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60876734	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1018106	chr8:130697368-130708333	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130694800-130703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:130696200-130703000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:130696200-130703200	Weak transcription	Pancreas	Pancrea
4	chr8:130696200-130704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130698400-130703000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:130698600-130703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130698600-130705200	Weak transcription	Placenta	Placenta
8	chr8:130698800-130702800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:130698800-130702800	Weak transcription	NHEK	skin
10	chr8:130698800-130703200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:130698800-130703200	Weak transcription	HMEC	breast
12	chr8:130698800-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:130699000-130703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:130699600-130704400	Weak transcription	HUVEC	blood vessel
15	chr8:130699800-130706400	Flanking Active TSS	K562	blood
16	chr8:130700200-130702400	Weak transcription	A549	lung
17	chr8:130700200-130704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:130701200-130703200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:130701400-130702000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:130701400-130702000	Enhancers	Fetal Heart	heart
21	chr8:130701400-130702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:130701600-130702000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:130701600-130703000	Enhancers	Liver	Liver
24	chr8:130701600-130705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:130701600-130708400	Weak transcription	Spleen	Spleen
26	chr8:130701800-130703000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:130701800-130703200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:130701800-130707200	Enhancers	Fetal Lung	lung

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