Variant report

Variant	rs319729
Chromosome Location	chr2:211969078-211969079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10497941	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13011419	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845301	1.00[ASN][1000 genomes]
rs319710	0.82[ASN][1000 genomes]
rs56393454	1.00[ASN][1000 genomes]
rs61141408	0.87[ASN][1000 genomes]
rs61181335	0.93[ASN][1000 genomes]
rs6738260	0.86[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	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs319729	ZNF823	trans	parietal	SCAN
rs319729	KLF7	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211968600-211969200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:211968600-211969200	Enhancers	Brain Germinal Matrix	brain
3	chr2:211968600-211969200	Enhancers	Brain Substantia Nigra	brain
4	chr2:211968600-211969200	Enhancers	Fetal Intestine Small	intestine
5	chr2:211968600-211969200	Enhancers	Fetal Muscle Leg	muscle
6	chr2:211968600-211969400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:211968600-211969400	Enhancers	Fetal Intestine Large	intestine
8	chr2:211968800-211969200	Enhancers	Liver	Liver
9	chr2:211968800-211969200	Enhancers	HSMM	muscle
10	chr2:211968800-211969200	Enhancers	HSMMtube	muscle

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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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