Variant report

Variant	rs1430588
Chromosome Location	chr7:84537650-84537651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10224915	0.80[AMR][1000 genomes]
rs10225193	0.80[AMR][1000 genomes]
rs10265448	0.82[ASW][hapmap]
rs10265460	0.80[AMR][1000 genomes]
rs10269338	0.80[AMR][1000 genomes]
rs10273875	0.80[AMR][1000 genomes]
rs17148273	1.00[MEX][hapmap]
rs1864527	0.92[YRI][hapmap]
rs55953721	1.00[EUR][1000 genomes]
rs57707400	1.00[EUR][1000 genomes]
rs59436027	1.00[EUR][1000 genomes]
rs73711249	1.00[EUR][1000 genomes]
rs73711250	1.00[EUR][1000 genomes]
rs73711251	1.00[EUR][1000 genomes]
rs73711254	1.00[EUR][1000 genomes]
rs73711255	1.00[EUR][1000 genomes]
rs73711259	1.00[EUR][1000 genomes]
rs73713532	1.00[EUR][1000 genomes]
rs73713533	1.00[EUR][1000 genomes]
rs73713537	1.00[EUR][1000 genomes]
rs73713539	1.00[EUR][1000 genomes]
rs73713542	1.00[EUR][1000 genomes]
rs73713547	1.00[EUR][1000 genomes]
rs73713551	1.00[EUR][1000 genomes]
rs73713552	1.00[EUR][1000 genomes]
rs73713554	1.00[EUR][1000 genomes]
rs7790070	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84534400-84542600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84534800-84539200	Weak transcription	Gastric	stomach
3	chr7:84536400-84537800	Enhancers	Fetal Heart	heart
4	chr7:84536400-84537800	Enhancers	Fetal Stomach	stomach
5	chr7:84536400-84537800	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:84536400-84542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:84536400-84542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:84536800-84539000	Weak transcription	K562	blood
9	chr7:84536800-84539400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:84537200-84537800	Enhancers	Fetal Lung	lung
11	chr7:84537400-84537800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:84537400-84537800	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:84537600-84537800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:84537600-84538000	Enhancers	Colon Smooth Muscle	Colon
15	chr7:84537600-84542400	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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