Variant report

Variant	rs12192359
Chromosome Location	chr6:13164648-13164649
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	chr6:13163839..13166326-chr6:13167451..13169624,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10948504	0.87[CEU][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10948508	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755284	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs11961234	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11963505	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11968523	0.82[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs13196010	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13200409	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs16873636	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16873671	0.94[ASN][1000 genomes]
rs4053018	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4715138	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs4715139	0.90[EUR][1000 genomes]
rs55637438	0.92[ASN][1000 genomes]
rs56160191	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61041084	0.92[ASN][1000 genomes]
rs6909143	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73371745	0.92[ASN][1000 genomes]
rs7758482	0.91[ASN][1000 genomes]
rs7771293	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12192359	RANBP9	cis	cerebellum	SCAN
rs12192359	ELOVL2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13150000-13175600	Weak transcription	Lung	lung
2	chr6:13153400-13178000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13153600-13167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:13153600-13178200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:13153600-13178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:13153800-13168000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:13153800-13184200	Weak transcription	Aorta	Aorta
8	chr6:13154000-13175600	Weak transcription	Fetal Heart	heart
9	chr6:13157000-13166000	Weak transcription	Brain Anterior Caudate	brain
10	chr6:13159200-13181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:13159600-13178400	Weak transcription	Right Ventricle	heart
12	chr6:13159800-13165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:13160000-13166000	Weak transcription	HSMM	muscle
14	chr6:13160000-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:13160000-13177400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:13162400-13175600	Weak transcription	Left Ventricle	heart
17	chr6:13163600-13183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13163800-13168400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:13163800-13171400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:13164200-13165200	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:13164600-13164800	Enhancers	Gastric	stomach
22	chr6:13164600-13164800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links