Variant report

Variant	rs72883072
Chromosome Location	chr3:45912298-45912299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45900221..45902681-chr3:45909475..45912786,3	K562	blood:
2	chr3:45911887..45914556-chr3:45925465..45927685,2	K562	blood:
3	chr3:45901181..45903986-chr3:45910875..45912786,2	K562	blood:
4	chr3:45908244..45910273-chr3:45911912..45913834,2	K562	blood:
5	chr3:45908212..45911820-chr3:45911912..45916177,5	K562	blood:

Variant related genes	Relation type
ENSG00000236930	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs35423527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58065025	0.93[AFR][1000 genomes]
rs6782398	1.00[AMR][1000 genomes]
rs6782429	1.00[AMR][1000 genomes]
rs72876559	1.00[AMR][1000 genomes]
rs72876563	1.00[AMR][1000 genomes]
rs72876570	1.00[AMR][1000 genomes]
rs72883074	1.00[AMR][1000 genomes]
rs72883076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884914	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890672	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7653195	1.00[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr3:45906800-45912600	Enhancers	Fetal Thymus	thymus
2	chr3:45908800-45913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:45909000-45912800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:45909200-45913400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:45909400-45912400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:45909800-45913400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:45909800-45914400	Enhancers	Primary T cells from cord blood	blood
8	chr3:45910000-45913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:45910200-45912400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:45910200-45913200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:45910200-45913400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:45910200-45913600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:45910400-45913000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:45910400-45913400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:45910400-45913600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:45910400-45913600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr3:45910400-45913800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:45910600-45912400	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:45910600-45912400	Enhancers	Duodenum Mucosa	Duodenum
20	chr3:45911200-45912600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:45912000-45912800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr3:45912000-45914400	Enhancers	GM12878-XiMat	blood
23	chr3:45912200-45912400	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:45912200-45913000	Flanking Active TSS	Thymus	Thymus
25	chr3:45912200-45913600	Weak transcription	Primary B cells from cord blood	blood
26	chr3:45912200-45915000	Flanking Active TSS	Dnd41	blood

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