Variant report

Variant	rs73984430
Chromosome Location	chr2:205814864-205814865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55941034	1.00[AMR][1000 genomes]
rs57531270	1.00[AMR][1000 genomes]
rs58416129	1.00[AMR][1000 genomes]
rs59381758	1.00[AMR][1000 genomes]
rs60086789	1.00[AMR][1000 genomes]
rs60446736	1.00[AMR][1000 genomes]
rs61001089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286794	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713878	1.00[AMR][1000 genomes]
rs6753755	1.00[AMR][1000 genomes]
rs73982523	1.00[AMR][1000 genomes]
rs73982525	1.00[AMR][1000 genomes]
rs73982529	1.00[AMR][1000 genomes]
rs73982531	1.00[AMR][1000 genomes]
rs73982532	1.00[AMR][1000 genomes]
rs73982556	1.00[AMR][1000 genomes]
rs73982587	1.00[AMR][1000 genomes]
rs73982600	1.00[AMR][1000 genomes]
rs73984428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984489	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984490	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579299	1.00[AMR][1000 genomes]
rs7597714	1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 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	chr2:205810200-205816000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr2:205810200-205819600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:205812200-205815400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:205813000-205815000	Weak transcription	A549	lung
5	chr2:205813400-205815800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:205813800-205815000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:205813800-205815400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:205813800-205816400	Enhancers	Primary T cells from cord blood	blood
9	chr2:205814000-205815200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:205814400-205816200	Enhancers	Osteobl	bone
11	chr2:205814400-205822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:205814400-205832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:205814800-205815000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:205814800-205815400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:205814800-205816000	Enhancers	NH-A	brain
16	chr2:205814800-205816600	Enhancers	HSMM	muscle
17	chr2:205814800-205816800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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