Variant report

Variant	rs16848520
Chromosome Location	chr2:213281849-213281850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10193290	0.88[CEU][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes]
rs10197535	0.82[YRI][hapmap]
rs13385225	0.85[EUR][1000 genomes]
rs13387495	0.88[CEU][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes]
rs13408977	0.85[EUR][1000 genomes]
rs13424127	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs1505348	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1505349	0.88[CEU][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes]
rs16848458	0.83[TSI][hapmap]
rs6755568	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757140	0.82[YRI][hapmap]
rs7564771	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003694	chr2:213216431-213290523	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763101	chr2:213248318-213290535	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16848520	MAP2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213279600-213283000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:213280000-213284800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:213280200-213282600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:213281000-213285200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:213281200-213282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:213281600-213282400	Enhancers	Brain Anterior Caudate	brain
7	chr2:213281600-213282600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:213281600-213282600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:213281600-213282800	Enhancers	Brain Angular Gyrus	brain
10	chr2:213281600-213286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:213281800-213282200	Weak transcription	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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