Variant report

Variant	rs6049583
Chromosome Location	chr20:24299758-24299759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11905416	1.00[EUR][1000 genomes]
rs11907190	1.00[EUR][1000 genomes]
rs11907337	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11907441	1.00[EUR][1000 genomes]
rs11908251	1.00[EUR][1000 genomes]
rs1475408	1.00[EUR][1000 genomes]
rs1603419	1.00[EUR][1000 genomes]
rs57839314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036734	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036735	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036736	0.84[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036738	1.00[EUR][1000 genomes]
rs6036739	1.00[EUR][1000 genomes]
rs6036740	1.00[EUR][1000 genomes]
rs60401696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049584	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049586	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049587	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049588	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049591	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049596	1.00[EUR][1000 genomes]
rs6049597	1.00[EUR][1000 genomes]
rs6049599	1.00[EUR][1000 genomes]
rs6049600	1.00[EUR][1000 genomes]
rs6049602	1.00[EUR][1000 genomes]
rs6049605	1.00[EUR][1000 genomes]
rs6114706	1.00[EUR][1000 genomes]
rs7273213	1.00[EUR][1000 genomes]
rs73339982	1.00[EUR][1000 genomes]
rs73341652	1.00[EUR][1000 genomes]
rs7346006	1.00[EUR][1000 genomes]
rs752290	0.98[AFR][1000 genomes];0.88[AMR][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833945	chr20:24163437-24349462	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24297000-24299800	Enhancers	Primary hematopoietic stem cells	blood
2	chr20:24297000-24299800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr20:24297000-24299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:24297000-24300400	Enhancers	Primary T cells from cord blood	blood
5	chr20:24297400-24299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr20:24297600-24299800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr20:24297600-24304600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:24297800-24299800	Enhancers	Fetal Thymus	thymus
9	chr20:24297800-24300000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr20:24298000-24300200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr20:24298000-24300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr20:24298000-24313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:24298200-24299800	Enhancers	Thymus	Thymus
14	chr20:24298200-24299800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:24298600-24299800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr20:24298600-24300000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr20:24299000-24299800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr20:24299200-24299800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:24299200-24299800	Enhancers	NHEK	skin
20	chr20:24299200-24300400	Enhancers	Fetal Stomach	stomach
21	chr20:24299400-24299800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr20:24299400-24299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:24299400-24299800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr20:24299400-24300000	Enhancers	HMEC	breast
25	chr20:24299400-24304400	Weak transcription	Dnd41	blood
26	chr20:24299600-24304200	Weak transcription	Spleen	Spleen

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