Variant report

Variant	rs547124661
Chromosome Location	chr19:52644692-52644693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000267827	Chromatin interaction
ENSG00000196267	Chromatin interaction
ENSG00000197608	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000238630	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv960860	chr19:52643619-52646538	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr19:52643200-52644800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:52643400-52645200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:52643600-52645000	Enhancers	Placenta	Placenta
5	chr19:52643800-52645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:52643800-52646200	Weak transcription	Thymus	Thymus
7	chr19:52644000-52644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:52644000-52645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:52644000-52647200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:52644000-52650200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
12	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
14	chr19:52644200-52656800	Weak transcription	Brain Germinal Matrix	brain
15	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
16	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:52644600-52645000	Weak transcription	NHEK	skin
19	chr19:52644600-52656800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

Quick Search:

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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