Variant report

Variant	rs669073
Chromosome Location	chr13:30527542-30527543
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:18)

rs_ID	r²[population]
rs489481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490221	0.97[EUR][1000 genomes]
rs494911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs515442	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs524155	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs545360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs546514	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs552745	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs561605	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs563520	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs597242	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs602909	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs605458	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs610545	0.98[EUR][1000 genomes]
rs630535	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs640583	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs645966	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs653257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:30523200-30529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30524400-30528200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:30525800-30528000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr13:30525800-30528200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:30526200-30528000	Enhancers	Primary T cells from cord blood	blood
7	chr13:30526200-30528000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:30526400-30528000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr13:30526400-30528200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr13:30526600-30528000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr13:30526600-30528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:30526600-30528200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:30526600-30528200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:30526800-30528400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:30527000-30528000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:30527200-30528200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr13:30527400-30528400	Enhancers	Primary neutrophils fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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