Variant report

Variant	rs73177955
Chromosome Location	chr12:104394738-104394739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11111869	0.93[ASN][1000 genomes]
rs11111871	1.00[AMR][1000 genomes]
rs12820602	0.98[ASN][1000 genomes]
rs1305392	0.82[ASN][1000 genomes]
rs17034977	0.84[ASN][1000 genomes]
rs2583252	0.83[ASN][1000 genomes]
rs34009709	0.87[ASN][1000 genomes]
rs3751206	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4135036	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4135128	0.89[ASN][1000 genomes]
rs4135137	0.89[ASN][1000 genomes]
rs58712273	0.82[ASN][1000 genomes]
rs67703341	0.84[ASN][1000 genomes]
rs67908919	0.87[ASN][1000 genomes]
rs7300034	0.83[ASN][1000 genomes]
rs73177940	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73177956	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177961	1.00[AMR][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
3	chr12:104380800-104400200	Weak transcription	NHLF	lung
4	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:104388800-104400200	Weak transcription	HSMM	muscle
12	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:104391600-104406400	Weak transcription	Ovary	ovary
14	chr12:104392600-104395200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:104393000-104407400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:104393200-104400200	Weak transcription	Fetal Stomach	stomach
17	chr12:104393400-104400200	Weak transcription	Fetal Muscle Leg	muscle

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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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