Variant report

Variant	rs12815495
Chromosome Location	chr12:4936912-4936913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12821926	0.89[ASN][1000 genomes]
rs12826294	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931723	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16931724	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17702448	0.94[ASN][1000 genomes]
rs36035339	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6489574	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489575	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297411	0.94[ASN][1000 genomes]
rs7958711	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971461	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972883	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972884	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4926400-4939000	Weak transcription	Spleen	Spleen
2	chr12:4927800-4938800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:4929000-4939200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:4929400-4937800	Weak transcription	Fetal Brain Female	brain
6	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
7	chr12:4930600-4938800	Weak transcription	Fetal Stomach	stomach
8	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
9	chr12:4931000-4937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:4933000-4937800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:4933000-4937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:4933200-4937600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:4933200-4938000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:4933200-4938400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:4933200-4938400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:4933200-4938400	Enhancers	Thymus	Thymus
17	chr12:4933200-4938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:4933400-4938200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:4933600-4938400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:4933800-4937800	Enhancers	Fetal Thymus	thymus
21	chr12:4934000-4939000	Enhancers	Primary T cells from cord blood	blood
22	chr12:4934000-4940000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:4934000-4942400	Weak transcription	HSMM	muscle
24	chr12:4934200-4938000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:4934200-4939000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:4934200-4939800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:4934400-4938200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:4934800-4937200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:4935000-4937600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:4935200-4937000	Enhancers	Primary B cells from cord blood	blood
31	chr12:4935400-4937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:4935600-4937000	Enhancers	Fetal Muscle Leg	muscle
33	chr12:4935800-4938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:4936200-4937400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:4936600-4937000	Enhancers	Aorta	Aorta
37	chr12:4936600-4937000	Flanking Active TSS	Dnd41	blood
38	chr12:4936600-4937600	Active TSS	GM12878-XiMat	blood
39	chr12:4936800-4937000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:4936800-4937200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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