Variant report

Variant	rs731770
Chromosome Location	chr7:128366485-128366486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10488627	0.96[CHD][hapmap]
rs339064	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs339066	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs339068	0.91[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339072	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs339092	0.93[CHD][hapmap]

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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs731770	TMEM209	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart
5	chr7:128365800-128366800	Enhancers	Fetal Lung	lung
6	chr7:128365800-128367200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128365800-128367400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:128365800-128367400	Enhancers	Fetal Stomach	stomach
9	chr7:128365800-128367600	Enhancers	Fetal Muscle Leg	muscle
10	chr7:128366000-128366600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128366000-128366600	Enhancers	K562	blood
12	chr7:128366000-128366800	Enhancers	HSMMtube	muscle
13	chr7:128366200-128367600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:128366200-128367600	Enhancers	Fetal Brain Female	brain
15	chr7:128366200-128374400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:128366400-128366600	Flanking Active TSS	Fetal Brain Male	brain

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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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