Variant report

Variant	rs16931723
Chromosome Location	chr12:4940453-4940454
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]
rs12815495	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12821926	0.91[CEU][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12826294	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16931724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702448	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489574	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489575	0.95[CEU][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297411	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971461	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs972883	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972884	1.00[AMR][1000 genomes];0.97[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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4929200-4966600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:4929400-4966600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:4930800-4942400	Weak transcription	Fetal Brain Male	brain
4	chr12:4934000-4942400	Weak transcription	HSMM	muscle
5	chr12:4935800-4965000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:4938400-4940600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr12:4938600-4940800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:4938600-4960200	Weak transcription	Fetal Brain Female	brain
9	chr12:4939000-4941800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:4939200-4940800	Enhancers	Fetal Thymus	thymus
11	chr12:4939200-4943000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:4939200-4959400	Weak transcription	Brain Germinal Matrix	brain
13	chr12:4939400-4940800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:4939600-4941400	Enhancers	Primary B cells from cord blood	blood
15	chr12:4939600-4942400	Weak transcription	HSMMtube	muscle
16	chr12:4939600-4966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:4939800-4940800	Enhancers	Fetal Stomach	stomach
18	chr12:4939800-4941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:4940200-4941400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:4940400-4940600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:4940400-4941000	Enhancers	Dnd41	blood
22	chr12:4940400-4941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:4940400-4942200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:4940400-4942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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