Variant report

Variant	rs12228084
Chromosome Location	chr12:67197631-67197632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10784588	0.82[AMR][1000 genomes]
rs10878509	0.81[AMR][1000 genomes]
rs10878510	0.80[AMR][1000 genomes]
rs12579363	0.82[AMR][1000 genomes]
rs1480013	0.80[AMR][1000 genomes]
rs1871551	0.82[AMR][1000 genomes]
rs4913499	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1047085	chr12:67052384-67199621	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1042117	chr12:67171949-67257435	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038689	chr12:67174430-67257435	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1044061	chr12:67178298-67257941	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67194400-67197800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:67194400-67198200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:67196200-67198800	Active TSS	Fetal Brain Female	brain
4	chr12:67196600-67198800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:67197200-67197800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:67197200-67197800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:67197200-67198400	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr12:67197400-67197800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:67197400-67197800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr12:67197400-67197800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:67197400-67197800	Active TSS	Brain Germinal Matrix	brain
12	chr12:67197400-67198000	Active TSS	Fetal Brain Male	brain
13	chr12:67197400-67198400	Active TSS	Brain Angular Gyrus	brain
14	chr12:67197400-67198600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:67197400-67198800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:67197400-67198800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:67197400-67198800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:67197600-67197800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr12:67197600-67197800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:67197600-67197800	Enhancers	Fetal Kidney	kidney
21	chr12:67197600-67198000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr12:67197600-67198000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:67197600-67198000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr12:67197600-67198200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:67197600-67198200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr12:67197600-67198600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr12:67197600-67198600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:67197600-67198600	Active TSS	Brain Hippocampus Middle	brain
29	chr12:67197600-67198800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:67197600-67198800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links