Variant report

Variant	rs4326228
Chromosome Location	chr6:23278475-23278476
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4461723	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463253	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640880	0.91[AFR][1000 genomes]
rs9348557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348558	0.94[AFR][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	nsv601123	chr6:23260824-23358239	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2762583	chr6:23269960-23288544	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4326228	HIST1H3A	cis	cerebellum	SCAN
rs4326228	SLC17A4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23277200-23278600	Enhancers	Brain Cingulate Gyrus	brain
2	chr6:23277400-23278600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:23277400-23279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:23277600-23278800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:23277800-23278600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:23277800-23278600	Enhancers	Fetal Kidney	kidney
7	chr6:23278000-23278800	Enhancers	Brain Anterior Caudate	brain
8	chr6:23278200-23278600	Enhancers	Brain Angular Gyrus	brain
9	chr6:23278400-23281200	Weak transcription	Brain Germinal Matrix	brain
10	chr6:23278400-23282000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:23278400-23282400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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Input of quick search could be:

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

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