Variant report

Variant	rs73350215
Chromosome Location	chr21:16887327-16887328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10482873	1.00[EUR][1000 genomes]
rs11910098	1.00[EUR][1000 genomes]
rs2056895	1.00[EUR][1000 genomes]
rs2256239	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823312	0.80[AFR][1000 genomes]
rs2823314	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823315	1.00[EUR][1000 genomes]
rs2823316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823336	1.00[EUR][1000 genomes]
rs2823339	1.00[EUR][1000 genomes]
rs2823388	1.00[EUR][1000 genomes]
rs2823391	1.00[EUR][1000 genomes]
rs28373635	1.00[EUR][1000 genomes]
rs28464100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593618	1.00[EUR][1000 genomes]
rs56093324	1.00[EUR][1000 genomes]
rs7278140	1.00[EUR][1000 genomes]
rs7278746	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73343627	1.00[EUR][1000 genomes]
rs73343632	1.00[EUR][1000 genomes]
rs73343642	1.00[EUR][1000 genomes]
rs73348660	1.00[EUR][1000 genomes]
rs73350208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73360728	1.00[EUR][1000 genomes]
rs9305643	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9305644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977402	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9977408	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9977669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980615	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9983290	1.00[EUR][1000 genomes]
rs9984076	1.00[EUR][1000 genomes]
rs9984269	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16885200-16887800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr21:16885400-16887400	Enhancers	Fetal Thymus	thymus
3	chr21:16885800-16887600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr21:16886200-16887400	Flanking Active TSS	HepG2	liver
5	chr21:16886400-16887600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:16886600-16888000	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:16887000-16887600	Enhancers	Primary hematopoietic stem cells	blood
8	chr21:16887000-16887800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr21:16887000-16887800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr21:16887000-16887800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:16887000-16888000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:16887000-16888000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr21:16887000-16888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:16887000-16888200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:16887200-16887400	Enhancers	GM12878-XiMat	blood
16	chr21:16887200-16887400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr21:16887200-16887800	Enhancers	Primary B cells from cord blood	blood
18	chr21:16887200-16887800	Enhancers	Liver	Liver
19	chr21:16887200-16888000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr21:16887200-16888000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr21:16887200-16888000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr21:16887200-16888200	Enhancers	Dnd41	blood
23	chr21:16887200-16888600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr21:16887200-16888800	Enhancers	Primary T cells from cord blood	blood
25	chr21:16887200-16888800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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