Variant report

Variant	rs2274906
Chromosome Location	chr1:160849420-160849421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11265503	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11265517	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1556519	0.90[LWK][hapmap];0.81[MKK][hapmap]
rs4656942	1.00[YRI][hapmap]
rs4656947	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6669353	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6700961	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2274906	TARP	trans	parietal	SCAN
rs2274906	SH2D2A	cis	cerebellum	SCAN
rs2274906	ISG20L2	cis	parietal	SCAN
rs2274906	FDPS	cis	cerebellum	SCAN
rs2274906	ISG20L2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160846800-160854200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:160847200-160852400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:160847600-160853800	Weak transcription	Spleen	Spleen
4	chr1:160848400-160849600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:160848600-160849600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:160848600-160851200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:160849000-160849800	Enhancers	Ovary	ovary
8	chr1:160849000-160852200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:160849200-160849600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:160849200-160855400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:160849400-160854200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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