Variant report

Variant	rs987055
Chromosome Location	chr4:75923151-75923152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17000078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17196260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198085	1.00[ASN][1000 genomes]
rs17249558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17386703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28582004	1.00[ASN][1000 genomes]
rs56823709	1.00[ASN][1000 genomes]
rs6838268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660401	1.00[ASN][1000 genomes]
rs72860964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860981	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863950	1.00[ASN][1000 genomes]
rs992064	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	nsv1005324	chr4:75689880-76233555	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv537142	chr4:75689880-76233555	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs987055	DKFZP564O0823	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75876400-75929600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:75902000-75929600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:75916800-75927200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:75917000-75925200	Weak transcription	Aorta	Aorta
5	chr4:75921000-75926600	Enhancers	Fetal Heart	heart
6	chr4:75921200-75929600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:75921200-75930400	Weak transcription	Gastric	stomach
8	chr4:75921400-75927800	Weak transcription	Right Atrium	heart
9	chr4:75922000-75924400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:75922000-75925800	Enhancers	Left Ventricle	heart
11	chr4:75922200-75923200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:75922400-75923800	Bivalent Enhancer	Fetal Brain Male	brain
13	chr4:75922400-75929600	Weak transcription	Psoas Muscle	Psoas
14	chr4:75922600-75923400	Enhancers	Fetal Brain Female	brain
15	chr4:75922800-75924000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:75923000-75927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:75923000-75927800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	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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