Variant report

Variant	rs12111691
Chromosome Location	chr7:38209093-38209094
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12112821	1.00[AMR][1000 genomes]
rs55670304	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55969247	1.00[AMR][1000 genomes]
rs57190517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57234454	0.84[AMR][1000 genomes]
rs59748716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348615	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348622	1.00[AMR][1000 genomes]
rs73348627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348650	1.00[AMR][1000 genomes]
rs73348667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693871	1.00[AMR][1000 genomes]
rs73693875	0.84[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	nsv8074	chr7:37865340-38210087	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38207400-38210000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr7:38207600-38209800	Enhancers	Fetal Lung	lung
3	chr7:38207800-38211200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:38208200-38209800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:38208200-38210400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:38208400-38209600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:38208400-38210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:38208400-38210800	Enhancers	GM12878-XiMat	blood
9	chr7:38208600-38209800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:38208600-38210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:38208600-38210200	Enhancers	NH-A	brain
12	chr7:38208800-38209600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:38208800-38210000	Enhancers	NHLF	lung

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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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