Variant report

Variant	rs28433747
Chromosome Location	chr19:42072353-42072354
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41959542..41961581-chr19:42071875..42074732,2	K562	blood:
2	chr19:42071841..42072361-chr2:230045042..230045586,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10409976	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10415465	0.99[ASN][1000 genomes]
rs10415860	0.99[ASN][1000 genomes]
rs10421584	0.96[ASN][1000 genomes]
rs10421785	0.91[ASN][1000 genomes]
rs12709854	0.95[ASN][1000 genomes]
rs12709855	0.95[ASN][1000 genomes]
rs17724225	0.95[ASN][1000 genomes]
rs28709791	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34007391	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35834169	0.95[ASN][1000 genomes]
rs3745938	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57979746	0.93[ASN][1000 genomes]
rs58163879	0.86[ASN][1000 genomes]
rs60646575	0.91[ASN][1000 genomes]
rs7247842	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251994	0.90[ASN][1000 genomes]
rs7257657	0.90[ASN][1000 genomes]
rs740591	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs758350	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42069400-42077600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:42069600-42072600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:42069600-42073000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42071400-42072600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:42071400-42074600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr19:42071400-42076400	Weak transcription	GM12878-XiMat	blood
7	chr19:42071600-42072400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr19:42071600-42073000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:42071600-42076400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:42071600-42082000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:42071800-42073000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr19:42071800-42073600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:42072000-42072400	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:42072000-42072600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr19:42072000-42072600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:42072000-42073200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:42072000-42073200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:42072000-42074200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:42072000-42074200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr19:42072000-42075000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr19:42072200-42073000	Enhancers	Primary T cells from cord blood	blood

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