Variant report

Variant	rs11781289
Chromosome Location	chr8:107098722-107098723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107092680..107095598-chr8:107097096..107099230,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505092	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10955414	0.94[EUR][1000 genomes]
rs11776357	0.96[EUR][1000 genomes]
rs11776518	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11777381	0.96[EUR][1000 genomes]
rs11779204	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11780096	0.96[EUR][1000 genomes]
rs11782242	0.96[EUR][1000 genomes]
rs11783133	0.96[EUR][1000 genomes]
rs11783202	0.96[EUR][1000 genomes]
rs11783203	0.96[EUR][1000 genomes]
rs11785850	0.96[EUR][1000 genomes]
rs11993112	0.94[EUR][1000 genomes]
rs11995098	0.94[EUR][1000 genomes]
rs11996266	0.83[EUR][1000 genomes]
rs11996791	0.94[EUR][1000 genomes]
rs1304597	0.94[EUR][1000 genomes]
rs1304598	0.94[EUR][1000 genomes]
rs16874162	0.96[EUR][1000 genomes]
rs16874196	0.83[EUR][1000 genomes]
rs16874206	0.83[EUR][1000 genomes]
rs16874228	0.90[TSI][hapmap]
rs28619047	0.96[EUR][1000 genomes]
rs56911473	0.94[EUR][1000 genomes]
rs60410374	0.87[EUR][1000 genomes]
rs60802190	0.91[EUR][1000 genomes]
rs61262484	0.87[EUR][1000 genomes]
rs62526081	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62527434	0.94[EUR][1000 genomes]
rs62527437	0.94[EUR][1000 genomes]
rs62527438	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62527443	0.81[EUR][1000 genomes]
rs62527444	0.96[EUR][1000 genomes]
rs62527453	0.96[EUR][1000 genomes]
rs62527457	0.96[EUR][1000 genomes]
rs62527458	0.88[EUR][1000 genomes]
rs62528960	0.96[EUR][1000 genomes]
rs62528961	0.96[EUR][1000 genomes]
rs62528969	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6469047	0.87[EUR][1000 genomes]
rs6995297	0.82[EUR][1000 genomes]
rs7014163	0.90[EUR][1000 genomes]
rs7461771	0.94[EUR][1000 genomes]
rs7813781	0.94[EUR][1000 genomes]
rs7815681	0.82[EUR][1000 genomes]
rs7822213	0.90[EUR][1000 genomes]
rs7826494	0.94[EUR][1000 genomes]
rs7831526	0.94[EUR][1000 genomes]
rs7832764	0.90[EUR][1000 genomes]
rs7841360	0.94[EUR][1000 genomes]
rs7842413	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv611842	chr8:107076421-107115482	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv891262	chr8:107076421-107209378	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv611843	chr8:107088426-107104545	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2830191	chr8:107088426-107115482	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11781289	OXR1	cis	parietal	SCAN
rs11781289	CTHRC1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107090600-107099000	Weak transcription	Esophagus	oesophagus
2	chr8:107093800-107099000	Weak transcription	Gastric	stomach
3	chr8:107094600-107099000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:107095600-107098800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:107095600-107099000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:107095600-107099200	Weak transcription	Fetal Lung	lung
7	chr8:107095800-107098800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:107095800-107098800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:107095800-107099000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:107095800-107099000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:107095800-107099200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:107096000-107098800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:107096000-107098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:107096000-107098800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:107096000-107098800	Weak transcription	NHEK	skin
16	chr8:107096000-107099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:107096000-107099000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:107096200-107098800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:107096200-107098800	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:107096200-107099000	Weak transcription	Fetal Kidney	kidney
21	chr8:107096400-107098800	Weak transcription	Adipose Nuclei	Adipose
22	chr8:107097200-107099400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:107097200-107100000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:107097600-107100000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:107097800-107099400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:107097800-107100600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:107098000-107100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:107098200-107099200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:107098400-107099200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:107098600-107099200	Enhancers	HUVEC	blood vessel
31	chr8:107098600-107099200	Enhancers	NHDF-Ad	bronchial
32	chr8:107098600-107099400	Enhancers	Stomach Mucosa	stomach
33	chr8:107098600-107100000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:107098600-107100200	Enhancers	HMEC	breast

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