Variant report

Variant	rs12279471
Chromosome Location	chr11:16424314-16424315
allele	A/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:14)

rs_ID	r²[population]
rs10466417	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11023935	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12278205	1.00[AMR][1000 genomes]
rs12284936	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12285944	1.00[AMR][1000 genomes]
rs12289034	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12289169	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12295257	1.00[AMR][1000 genomes]
rs12295262	1.00[AMR][1000 genomes]
rs16933000	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16933119	1.00[ASN][1000 genomes]
rs16933151	1.00[ASN][1000 genomes]
rs2352238	1.00[AMR][1000 genomes]
rs60685248	0.90[AFR][1000 genomes];1.00[ASN][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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv832075	chr11:16391700-16490934	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16415400-16424400	Weak transcription	Fetal Heart	heart
2	chr11:16417200-16434200	Weak transcription	Psoas Muscle	Psoas
3	chr11:16418000-16425200	Weak transcription	Brain Germinal Matrix	brain
4	chr11:16419600-16425000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:16420400-16424400	Weak transcription	Fetal Intestine Large	intestine
6	chr11:16420400-16424400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:16422400-16424400	Enhancers	HepG2	liver
8	chr11:16423400-16424400	Enhancers	Brain Substantia Nigra	brain
9	chr11:16423600-16424400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr11:16423600-16428000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:16423800-16428200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:16424000-16424400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16424000-16424400	Enhancers	Brain Hippocampus Middle	brain
14	chr11:16424000-16425000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr11:16424000-16425400	Enhancers	Fetal Kidney	kidney
16	chr11:16424000-16425600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:16424000-16425800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr11:16424000-16427400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:16424000-16428000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:16424200-16424400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr11:16424200-16424400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:16424200-16424400	Enhancers	Brain Angular Gyrus	brain
23	chr11:16424200-16424400	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:16424200-16424600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr11:16424200-16425000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:16424200-16425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:16424200-16427400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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