Variant report

Variant	rs1234008
Chromosome Location	chr12:42313665-42313666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491997	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880189	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11181236	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11181237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181239	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11181240	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310489	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1497168	0.85[EUR][1000 genomes]
rs1860604	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1860605	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2406427	0.98[EUR][1000 genomes]
rs722216	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7305744	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7308779	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7309314	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs986619	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42311400-42315400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42311600-42314200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:42312000-42313800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:42312000-42313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:42312200-42314400	Weak transcription	Fetal Kidney	kidney
6	chr12:42312200-42323600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:42312400-42313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:42312400-42313800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:42312400-42315000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:42312400-42326000	Weak transcription	Psoas Muscle	Psoas
11	chr12:42312600-42314600	Enhancers	Fetal Brain Male	brain
12	chr12:42312600-42314800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:42312800-42314800	Enhancers	Fetal Lung	lung
14	chr12:42313000-42314200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:42313000-42314200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:42313000-42314200	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:42313000-42314600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:42313000-42315000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:42313000-42316000	Enhancers	Fetal Stomach	stomach
20	chr12:42313000-42321200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:42313200-42314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:42313200-42314000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:42313200-42314600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:42313400-42313800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:42313400-42314000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:42313400-42314000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr12:42313400-42314200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:42313400-42314200	Active TSS	Brain Substantia Nigra	brain
29	chr12:42313400-42314400	Active TSS	Right Atrium	heart
30	chr12:42313400-42314600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:42313400-42315400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:42313600-42313800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:42313600-42314000	Active TSS	Brain Cingulate Gyrus	brain
34	chr12:42313600-42314000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:42313600-42314200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:42313600-42314200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:42313600-42314200	Active TSS	Brain Angular Gyrus	brain
38	chr12:42313600-42314200	Active TSS	Brain Hippocampus Middle	brain
39	chr12:42313600-42314200	Flanking Active TSS	Fetal Brain Female	brain
40	chr12:42313600-42314600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:42313600-42314600	Active TSS	Brain Anterior Caudate	brain

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