Variant report

Variant	rs7857179
Chromosome Location	chr9:13428773-13428774
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	chr9:13428329..13429978-chr9:14321204..14324135,2	MCF-7	breast:
2	chr9:13427036..13429704-chr9:14394082..14395799,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10115277	0.86[EUR][1000 genomes]
rs10961035	0.82[EUR][1000 genomes]
rs10961038	0.85[EUR][1000 genomes]
rs10961040	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10961041	0.82[EUR][1000 genomes]
rs10961042	0.86[EUR][1000 genomes]
rs10961043	0.86[EUR][1000 genomes]
rs12000439	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12339589	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12339756	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12340743	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12343381	0.90[EUR][1000 genomes]
rs12348720	0.85[EUR][1000 genomes]
rs12348887	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12349249	0.87[EUR][1000 genomes]
rs12351125	0.87[EUR][1000 genomes]
rs12352551	0.91[EUR][1000 genomes]
rs12352741	0.87[EUR][1000 genomes]
rs12353283	0.86[EUR][1000 genomes]
rs12552631	0.83[ASN][1000 genomes]
rs17190837	0.85[EUR][1000 genomes]
rs17191126	0.90[EUR][1000 genomes]
rs1927649	0.87[EUR][1000 genomes]
rs2017195	0.82[EUR][1000 genomes]
rs57935015	0.90[EUR][1000 genomes]
rs59092758	0.86[EUR][1000 genomes]
rs59700548	0.85[EUR][1000 genomes]
rs6474770	0.82[EUR][1000 genomes]
rs7027951	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7045055	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7048309	0.81[EUR][1000 genomes]
rs73410180	0.91[EUR][1000 genomes]
rs73410188	0.92[EUR][1000 genomes]
rs73410195	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7849940	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880023	0.91[EUR][1000 genomes]
rs9987546	0.91[EUR][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	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv831515	chr9:13333205-13517308	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7857179	RP11-536O18.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13426200-13432000	Enhancers	Fetal Lung	lung
2	chr9:13427400-13429800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:13427600-13430800	Enhancers	Fetal Heart	heart
4	chr9:13427800-13428800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:13427800-13428800	Enhancers	Fetal Brain Male	brain
6	chr9:13427800-13429000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr9:13427800-13429000	Active TSS	Right Atrium	heart
8	chr9:13427800-13429200	Enhancers	Adipose Nuclei	Adipose
9	chr9:13427800-13429400	Enhancers	Colon Smooth Muscle	Colon
10	chr9:13427800-13429600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:13427800-13429800	Enhancers	Brain Hippocampus Middle	brain
12	chr9:13427800-13430000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:13427800-13430200	Enhancers	Brain Angular Gyrus	brain
14	chr9:13427800-13430800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:13427800-13432000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:13427800-13432600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:13427800-13432600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:13428000-13428800	Weak transcription	Fetal Stomach	stomach
19	chr9:13428000-13428800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:13428000-13429000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:13428000-13429200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:13428200-13428800	Enhancers	NHEK	skin
23	chr9:13428200-13429400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:13428200-13429400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:13428200-13430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:13428400-13429400	Weak transcription	Brain Germinal Matrix	brain
27	chr9:13428400-13429400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:13428400-13431000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:13428400-13432400	Weak transcription	HUVEC	blood vessel
30	chr9:13428600-13429000	Flanking Active TSS	Fetal Brain Female	brain
31	chr9:13428600-13432600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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