Variant report

Variant	rs57956069
Chromosome Location	chr19:52645279-52645280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1007485	0.81[AFR][1000 genomes]
rs11878579	1.00[EUR][1000 genomes]
rs11878805	1.00[EUR][1000 genomes]
rs11881266	1.00[EUR][1000 genomes]
rs16983489	1.00[EUR][1000 genomes]
rs73571261	1.00[EUR][1000 genomes]
rs8106875	1.00[EUR][1000 genomes]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52643200-52645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:52643800-52646200	Weak transcription	Thymus	Thymus
3	chr19:52644000-52645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:52644000-52647200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:52644000-52650200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
7	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
9	chr19:52644200-52656800	Weak transcription	Brain Germinal Matrix	brain
10	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
11	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:52644600-52656800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:52644800-52645800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:52645000-52645800	Weak transcription	Placenta	Placenta
16	chr19:52645000-52645800	Enhancers	NHEK	skin
17	chr19:52645200-52647400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:52645200-52659400	Weak transcription	Placenta Amnion	Placenta Amnion

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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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