Variant report

Variant	rs74076125
Chromosome Location	chr14:97250030-97250031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148833	1.00[AMR][1000 genomes]
rs10438228	1.00[AMR][1000 genomes]
rs28373911	1.00[AMR][1000 genomes]
rs28441262	1.00[AMR][1000 genomes]
rs28472532	1.00[AMR][1000 genomes]
rs28483910	1.00[AMR][1000 genomes]
rs28540414	1.00[AMR][1000 genomes]
rs74076105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076109	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076110	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076276	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323952	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS 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	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:97248800-97251400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:97249000-97252600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:97249400-97250600	Flanking Active TSS	NHEK	skin
4	chr14:97249400-97251000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:97249600-97250200	Enhancers	Osteobl	bone
6	chr14:97249600-97250800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:97249800-97250200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:97249800-97251400	Enhancers	Primary B cells from cord blood	blood
9	chr14:97249800-97251400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:97249800-97251400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:97250000-97250200	Flanking Active TSS	HMEC	breast
12	chr14:97250000-97250400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:97250000-97250400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:97250000-97250800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:97250000-97251400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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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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