Variant report

Variant	rs2590489
Chromosome Location	chr14:81200301-81200302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1197381	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2590484	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2590485	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2590486	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2590487	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2590488	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2596107	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619657	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2619675	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2630271	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35178479	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36055485	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55700935	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8018693	0.80[AMR][1000 genomes]
rs8022894	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs936579	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs977614	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81182000-81206400	Weak transcription	Fetal Thymus	thymus
2	chr14:81182800-81224600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:81185600-81208600	Weak transcription	Thymus	Thymus
4	chr14:81185800-81221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81192800-81221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
7	chr14:81193000-81220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81193600-81209000	Weak transcription	HSMM	muscle
9	chr14:81195400-81223000	Weak transcription	Pancreas	Pancrea
10	chr14:81197400-81212800	Weak transcription	A549	lung
11	chr14:81198200-81220000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:81199000-81200400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:81199800-81202800	Weak transcription	Dnd41	blood
14	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood

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

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