Variant report

Variant	rs73350219
Chromosome Location	chr21:16889297-16889298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16436565..16439043-chr21:16887859..16890632,2	MCF-7	breast:
2	chr21:16864227..16867131-chr21:16888537..16890334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

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]
rs73350215	1.00[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]
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16887400-16893600	Weak transcription	Fetal Thymus	thymus
2	chr21:16887800-16893000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:16887800-16893000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:16887800-16893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:16888000-16892800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr21:16888000-16892800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr21:16888000-16893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:16888200-16893000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:16888600-16892800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:16888800-16890800	Weak transcription	Primary T cells from cord blood	blood
11	chr21:16888800-16893000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:16889000-16893000	Weak transcription	HepG2	liver

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