Variant report

Variant	rs2994565
Chromosome Location	chr1:56798308-56798309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12741124	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793659	0.85[EUR][1000 genomes]
rs2994555	0.85[EUR][1000 genomes]
rs2994556	0.85[EUR][1000 genomes]
rs2994557	0.85[EUR][1000 genomes]
rs2994558	0.85[EUR][1000 genomes]
rs3005883	0.83[EUR][1000 genomes]
rs3005885	0.85[EUR][1000 genomes]
rs3005886	0.85[EUR][1000 genomes]
rs3005887	0.85[EUR][1000 genomes]
rs3005892	0.85[EUR][1000 genomes]
rs3005893	0.85[EUR][1000 genomes]
rs3005901	0.81[EUR][1000 genomes]
rs3005912	0.88[EUR][1000 genomes]
rs6588617	0.85[EUR][1000 genomes]
rs6670302	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670695	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72916227	0.87[EUR][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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1015037	chr1:56784322-56814739	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
2	chr1:56787200-56800600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
4	chr1:56795400-56798400	Enhancers	Fetal Intestine Small	intestine
5	chr1:56796000-56798400	Enhancers	NH-A	brain
6	chr1:56796200-56799400	Weak transcription	Fetal Heart	heart
7	chr1:56796400-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:56797000-56800800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:56797200-56798400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:56797200-56799200	Weak transcription	Placenta	Placenta
11	chr1:56797200-56800800	Weak transcription	Psoas Muscle	Psoas
12	chr1:56797200-56803000	Weak transcription	NHLF	lung
13	chr1:56797400-56799600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:56797400-56800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:56797800-56805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:56798200-56800000	Enhancers	HepG2	liver
17	chr1:56798200-56800400	Enhancers	Liver	Liver
18	chr1:56798200-56802400	Weak transcription	NHDF-Ad	bronchial

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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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