Variant report

Variant	rs343150
Chromosome Location	chr2:20596551-20596552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:
2	chr2:20591374..20593036-chr2:20595761..20597892,2	K562	blood:
3	chr2:20594854..20598775-chr2:20849778..20852579,3	MCF-7	breast:
4	chr2:20594707..20597635-chr2:20644222..20647598,4	MCF-7	breast:
5	chr2:20595234..20597261-chr2:20850505..20852505,2	MCF-7	breast:
6	chr2:20545031..20546726-chr2:20595623..20597239,2	MCF-7	breast:
7	chr2:20594752..20597920-chr2:20599422..20601687,4	MCF-7	breast:
8	chr2:20594606..20597852-chr2:20647913..20650943,6	MCF-7	breast:
9	chr2:20596118..20598186-chr2:20842242..20843987,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000212171	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1032075	0.83[GIH][hapmap]
rs2449623	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs343141	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs343145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343155	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs343160	0.90[JPT][hapmap]
rs6738346	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs343150	GDF7	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20592600-20600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:20596200-20601000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:20596400-20597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20596400-20598600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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