Variant report

Variant	rs7650847
Chromosome Location	chr3:142663207-142663208
allele	C/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:15)

rs_ID	r²[population]
rs2270766	0.87[EUR][1000 genomes]
rs4683437	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4683438	0.87[EUR][1000 genomes]
rs4683439	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4683707	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4683709	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4683710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683715	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770560	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73234774	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9653945	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9811066	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9821138	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9838306	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv4040	chr3:142649146-142675752	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142660200-142665800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:142660400-142663800	Enhancers	Liver	Liver
3	chr3:142661200-142664400	Enhancers	HepG2	liver
4	chr3:142662400-142663400	Enhancers	NHEK	skin
5	chr3:142663000-142663400	Active TSS	Primary T cells fromperipheralblood	blood
6	chr3:142663000-142663400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:142663000-142663600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:142663000-142663600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:142663000-142663600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr3:142663000-142663600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:142663000-142663800	Active TSS	Duodenum Mucosa	Duodenum
12	chr3:142663000-142663800	Flanking Active TSS	GM12878-XiMat	blood
13	chr3:142663200-142663400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr3:142663200-142663400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:142663200-142663600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr3:142663200-142663600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr3:142663200-142665800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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