Variant report

Variant	rs2294073
Chromosome Location	chr8:2065962-2065963
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10101799	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2294073	ZNF71	trans	multi-tissue	Pritchard
rs2294073	MYOM2	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2023600-2067000	Weak transcription	Right Atrium	heart
2	chr8:2034600-2074200	Weak transcription	Fetal Heart	heart
3	chr8:2035000-2075000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:2050000-2070000	Weak transcription	Psoas Muscle	Psoas
5	chr8:2053400-2074000	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:2057600-2066400	Weak transcription	Fetal Kidney	kidney
7	chr8:2061800-2069400	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:2063000-2074200	Strong transcription	Left Ventricle	heart
9	chr8:2065200-2066800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:2065200-2066800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:2065200-2067000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:2065600-2066400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr8:2065600-2067000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:2065600-2067400	Strong transcription	Fetal Muscle Leg	muscle
15	chr8:2065600-2068000	Strong transcription	Right Ventricle	heart
16	chr8:2065800-2066000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:2065800-2066600	Enhancers	Primary T helper memory cells from peripheral blood 2	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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