Variant report

Variant	rs12352551
Chromosome Location	chr9:13429104-13429105
allele	A/C
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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10115277	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10961038	0.94[EUR][1000 genomes]
rs10961040	0.83[EUR][1000 genomes]
rs10961041	0.91[EUR][1000 genomes]
rs10961042	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10961043	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12000439	0.87[EUR][1000 genomes]
rs12339589	0.83[EUR][1000 genomes]
rs12339756	0.90[EUR][1000 genomes]
rs12340743	0.83[EUR][1000 genomes]
rs12343381	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12348720	0.94[EUR][1000 genomes]
rs12348887	0.83[EUR][1000 genomes]
rs12349249	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12351125	0.94[EUR][1000 genomes]
rs12352741	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12353283	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17190837	0.94[EUR][1000 genomes]
rs17191126	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1927649	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57935015	0.80[EUR][1000 genomes]
rs59092758	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59700548	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7027951	0.84[EUR][1000 genomes]
rs7045055	0.84[EUR][1000 genomes]
rs73410180	0.81[EUR][1000 genomes]
rs73410188	0.83[EUR][1000 genomes]
rs73410195	0.84[EUR][1000 genomes]
rs7849940	0.84[EUR][1000 genomes]
rs7857179	0.91[EUR][1000 genomes]
rs880023	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987546	0.95[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:34 , 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	chr9:13427800-13429200	Enhancers	Adipose Nuclei	Adipose
5	chr9:13427800-13429400	Enhancers	Colon Smooth Muscle	Colon
6	chr9:13427800-13429600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:13427800-13429800	Enhancers	Brain Hippocampus Middle	brain
8	chr9:13427800-13430000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:13427800-13430200	Enhancers	Brain Angular Gyrus	brain
10	chr9:13427800-13430800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:13427800-13432000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:13427800-13432600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:13427800-13432600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:13428000-13429200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:13428200-13429400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:13428200-13429400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:13428200-13430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:13428400-13429400	Weak transcription	Brain Germinal Matrix	brain
19	chr9:13428400-13429400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:13428400-13431000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:13428400-13432400	Weak transcription	HUVEC	blood vessel
22	chr9:13428600-13432600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:13428800-13429200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:13428800-13429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:13428800-13429200	Weak transcription	NHEK	skin
26	chr9:13428800-13429600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:13428800-13429800	Enhancers	Psoas Muscle	Psoas
28	chr9:13428800-13430000	Enhancers	Fetal Stomach	stomach
29	chr9:13428800-13431600	Enhancers	Fetal Muscle Leg	muscle
30	chr9:13428800-13432600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:13429000-13429200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:13429000-13429400	Enhancers	Fetal Brain Male	brain
33	chr9:13429000-13429600	Enhancers	Fetal Brain Female	brain
34	chr9:13429000-13430000	Weak transcription	Right Atrium	heart

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