Variant report

Variant	rs57397699
Chromosome Location	chr11:71254716-71254717
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4128739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58875192	1.00[AMR][1000 genomes]
rs61282803	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61517798	1.00[AMR][1000 genomes]
rs73528436	0.87[EUR][1000 genomes]
rs73528454	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73528475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73528479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73530493	1.00[AMR][1000 genomes]
rs73530494	1.00[AMR][1000 genomes]
rs73530497	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:71251200-71255400	ZNF genes & repeats	GM12878-XiMat	blood
3	chr11:71252400-71255000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:71252800-71257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:71252800-71257000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:71254000-71255200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:71254000-71256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:71254200-71255000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:71254200-71255000	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:71254200-71255200	Enhancers	Primary B cells from cord blood	blood
11	chr11:71254200-71255200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:71254200-71256200	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:71254200-71256400	Enhancers	HepG2	liver
14	chr11:71254200-71256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:71254400-71255200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:71254400-71255400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:71254400-71255400	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:71254600-71255000	Enhancers	Hela-S3	cervix
19	chr11:71254600-71255400	Enhancers	Fetal Thymus	thymus

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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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