Variant report

Variant	rs9941113
Chromosome Location	chr16:81458429-81458430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81457019..81459351-chr16:81477437..81480635,4	K562	blood:
2	chr16:81456230..81458519-chr16:81478513..81480635,2	K562	blood:
3	chr16:81450805..81453422-chr16:81457047..81459629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10871413	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11643611	0.86[EUR][1000 genomes]
rs11644873	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11649257	0.91[EUR][1000 genomes]
rs11865413	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12599356	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13332457	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28367160	0.94[AMR][1000 genomes]
rs62043896	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62043902	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7188944	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73588526	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8044201	0.97[AMR][1000 genomes]
rs8046850	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8046885	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9927153	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81453000-81462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81455600-81465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:81457800-81458600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr16:81457800-81459200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:81457800-81459400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:81457800-81459600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:81458000-81458800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr16:81458000-81459000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:81458000-81459400	Enhancers	Primary B cells from cord blood	blood
10	chr16:81458200-81458800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr16:81458200-81459000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:81458200-81459000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr16:81458200-81459200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:81458200-81459200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr16:81458200-81459200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81458200-81459400	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:81458400-81458600	Bivalent Enhancer	HepG2	liver
18	chr16:81458400-81458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:81458400-81458800	Enhancers	Primary T cells from cord blood	blood
20	chr16:81458400-81458800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr16:81458400-81458800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:81458400-81458800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:81458400-81458800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr16:81458400-81458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81458400-81458800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:81458400-81458800	Enhancers	Fetal Thymus	thymus
27	chr16:81458400-81458800	Enhancers	Thymus	Thymus
28	chr16:81458400-81459000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr16:81458400-81459000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:81458400-81459000	Enhancers	Dnd41	blood
31	chr16:81458400-81459000	Enhancers	GM12878-XiMat	blood
32	chr16:81458400-81459000	Enhancers	HMEC	breast
33	chr16:81458400-81459000	Enhancers	NHEK	skin
34	chr16:81458400-81459200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr16:81458400-81459200	Enhancers	A549	lung

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