Variant report

Variant	rs8181728
Chromosome Location	chr12:116999897-116999898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116998103..117000799-chr12:117011833..117013423,2	MCF-7	breast:
2	chr12:116999859..117002706-chr12:117013577..117016502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171471	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10161436	0.87[CEU][hapmap];0.95[GIH][hapmap];0.86[EUR][1000 genomes]
rs7133288	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181674	0.87[CEU][hapmap];0.95[GIH][hapmap];0.87[EUR][1000 genomes]
rs8181752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8181768	0.87[CEU][hapmap];0.95[GIH][hapmap];0.86[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	nsv1040904	chr12:116999897-117033944	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8181728	PTPN11	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116997400-117001800	Weak transcription	Fetal Lung	lung
2	chr12:116997600-117000000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:116997600-117000000	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:116997800-117000000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:116997800-117000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:116997800-117000200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:116997800-117000200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:116997800-117000600	Weak transcription	Stomach Mucosa	stomach
9	chr12:116998000-117000000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:116998000-117000000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:116998000-117001800	Weak transcription	NHEK	skin
12	chr12:116998200-117000200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:116998400-117000000	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:116998600-117000000	Enhancers	Right Atrium	heart
15	chr12:116998600-117000400	Enhancers	Dnd41	blood
16	chr12:116998800-117000600	Weak transcription	Thymus	Thymus
17	chr12:116999600-117000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:116999600-117000200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:116999600-117000400	Enhancers	K562	blood
20	chr12:116999800-117000000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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