Variant report

Variant	rs232773
Chromosome Location	chr1:59087556-59087557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1961788	0.83[EUR][1000 genomes]
rs232774	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs232803	0.94[EUR][1000 genomes]
rs232807	0.94[EUR][1000 genomes]
rs232810	0.95[EUR][1000 genomes]
rs232811	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs232812	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs232912	0.83[EUR][1000 genomes]
rs504996	1.00[YRI][hapmap]

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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs232773	MYSM1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59082600-59087600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:59082800-59087600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:59083200-59088000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:59083600-59087600	Enhancers	Stomach Mucosa	stomach
5	chr1:59084000-59087600	Enhancers	Lung	lung
6	chr1:59085600-59087600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:59085800-59087600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:59085800-59094800	Weak transcription	HMEC	breast
9	chr1:59086000-59100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:59086400-59091000	Weak transcription	HUVEC	blood vessel
11	chr1:59086400-59091200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:59086400-59092600	Weak transcription	NHEK	skin
13	chr1:59086400-59104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:59086600-59090600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:59087000-59087600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:59087200-59101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:59087400-59087600	Enhancers	Adipose Nuclei	Adipose
18	chr1:59087400-59087600	Enhancers	Esophagus	oesophagus

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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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