Variant report

Variant	rs1329774
Chromosome Location	chr9:73761232-73761233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1032845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1032846	0.82[AMR][1000 genomes]
rs10746858	0.82[AMR][1000 genomes]
rs11794936	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1411169	0.82[AMR][1000 genomes]
rs1888075	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1888076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1927939	0.82[AMR][1000 genomes]
rs1927940	0.82[AMR][1000 genomes]
rs1927941	0.82[AMR][1000 genomes]
rs4745058	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035505	chr9:73709852-73934353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv614599	chr9:73755434-73767864	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
3	nsv614600	chr9:73755602-73765910	Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	inside rSNPs	diseases
4	nsv614601	chr9:73755602-73767972	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv614602	chr9:73756531-73767864	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv614603	chr9:73757570-73767972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
7	nsv466418	chr9:73757570-73768548	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
8	nsv614604	chr9:73757570-73768548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1329774	MAMDC2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73758600-73764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73759000-73761800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:73759000-73762000	Enhancers	HUVEC	blood vessel
4	chr9:73759000-73762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:73759800-73762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:73760000-73763000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73760200-73762000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:73760400-73761400	Weak transcription	Fetal Heart	heart
9	chr9:73760400-73762000	Weak transcription	Fetal Intestine Small	intestine
10	chr9:73760600-73762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:73760800-73762600	Enhancers	Primary hematopoietic stem cells	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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