Variant report

Variant	rs7297411
Chromosome Location	chr12:4933440-4933441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12815495	0.94[ASN][1000 genomes]
rs12821926	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12826294	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16931723	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931724	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702448	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775040	0.81[EUR][1000 genomes]
rs36035339	1.00[ASN][1000 genomes]
rs6489574	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489575	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs7958711	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971461	0.80[CEU][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs972883	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972884	0.83[EUR][1000 genomes];0.94[ASN][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	nsv520570	chr12:4929787-4954591	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1047238	chr12:4929787-4955435	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7297411	DCP1B	cis	cerebellum	SCAN
rs7297411	WNK1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4925600-4934600	Enhancers	Primary B cells from cord blood	blood
2	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
3	chr12:4927400-4934400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:4927400-4935400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4927800-4938800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:4928000-4935800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:4929000-4934800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:4929200-4934000	Weak transcription	Primary T cells from cord blood	blood
10	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:4929400-4934000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:4929400-4937800	Weak transcription	Fetal Brain Female	brain
13	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:4929800-4933800	Weak transcription	Fetal Thymus	thymus
15	chr12:4930400-4934200	Weak transcription	GM12878-XiMat	blood
16	chr12:4930400-4935600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:4930600-4934800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:4930600-4938800	Weak transcription	Fetal Stomach	stomach
19	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
20	chr12:4931000-4937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:4932600-4933600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:4932800-4934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:4932800-4934400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:4933000-4933600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:4933000-4933600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:4933000-4933600	Flanking Active TSS	NH-A	brain
27	chr12:4933000-4934000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:4933000-4934000	Enhancers	HSMM	muscle
29	chr12:4933000-4934000	Enhancers	NHDF-Ad	bronchial
30	chr12:4933000-4935800	Enhancers	HUVEC	blood vessel
31	chr12:4933000-4937800	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:4933000-4937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:4933200-4933600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:4933200-4933600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:4933200-4933600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:4933200-4934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:4933200-4936800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:4933200-4937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:4933200-4938000	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:4933200-4938400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:4933200-4938400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:4933200-4938400	Enhancers	Thymus	Thymus
43	chr12:4933200-4938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:4933400-4938200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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