Variant report

Variant	rs28607988
Chromosome Location	chr3:45913338-45913339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:45911887..45914556-chr3:45925465..45927685,2	K562	blood:
2	chr3:45908244..45910273-chr3:45911912..45913834,2	K562	blood:
3	chr3:45908212..45911820-chr3:45911912..45916177,5	K562	blood:

Variant related genes	Relation type
ENSG00000236930	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1129183	0.85[AFR][1000 genomes]
rs1883091	0.85[AFR][1000 genomes]
rs3774644	0.85[AFR][1000 genomes]
rs57319220	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60103812	0.85[AFR][1000 genomes]
rs9823523	0.84[ASN][1000 genomes]
rs9842595	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9844499	0.85[AFR][1000 genomes]
rs9849511	0.85[AFR][1000 genomes]
rs9855205	0.84[ASN][1000 genomes]
rs9868648	0.85[AFR][1000 genomes]
rs9881306	0.84[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45909200-45913400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:45909800-45913400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:45909800-45914400	Enhancers	Primary T cells from cord blood	blood
4	chr3:45910000-45913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:45910200-45913400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:45910200-45913600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:45910400-45913400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:45910400-45913600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:45910400-45913600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:45910400-45913800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:45912000-45914400	Enhancers	GM12878-XiMat	blood
12	chr3:45912200-45913600	Weak transcription	Primary B cells from cord blood	blood
13	chr3:45912200-45915000	Flanking Active TSS	Dnd41	blood
14	chr3:45912400-45913400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:45912400-45913400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:45912400-45913600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:45912400-45913600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:45912400-45922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:45912600-45913800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:45912800-45914400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:45913000-45913400	Active TSS	Thymus	Thymus
22	chr3:45913000-45913800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:45913200-45914200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:45913200-45914600	Flanking Active TSS	Fetal Thymus	thymus

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