Variant report

Variant	rs16982485
Chromosome Location	chr19:18624390-18624391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18611587..18620542-chr19:18622883..18629236,13	MCF-7	breast:
2	chr19:18622899..18625559-chr19:18684021..18686156,2	MCF-7	breast:
3	chr19:18620701..18622769-chr19:18623745..18625540,2	K562	blood:
4	chr19:18624024..18629348-chr19:18653543..18656506,5	K562	blood:
5	chr19:18577781..18580472-chr19:18624085..18625871,2	MCF-7	breast:
6	chr19:18622673..18624807-chr19:18631911..18634075,2	K562	blood:
7	chr19:18620364..18629414-chr19:18629622..18635316,18	MCF-7	breast:
8	chr19:18618174..18621109-chr19:18623910..18627140,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11574806	0.87[EUR][1000 genomes]
rs16982418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982427	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16982429	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314669	0.87[EUR][1000 genomes]
rs34078075	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34868531	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35328461	1.00[EUR][1000 genomes]
rs58410315	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58604797	1.00[EUR][1000 genomes]
rs58723610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58842178	1.00[EUR][1000 genomes]
rs59511380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59549953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60687616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61743938	1.00[EUR][1000 genomes]
rs61743954	0.87[EUR][1000 genomes]
rs7247603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73523072	0.87[EUR][1000 genomes]
rs73523074	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8101976	1.00[EUR][1000 genomes]
rs8102397	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18600400-18630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:18606800-18625800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:18613800-18631000	Weak transcription	Fetal Brain Female	brain
4	chr19:18616800-18625600	Weak transcription	GM12878-XiMat	blood
5	chr19:18617400-18625400	Weak transcription	Brain Germinal Matrix	brain
6	chr19:18618400-18625800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:18618400-18625800	Weak transcription	HMEC	breast
8	chr19:18618600-18625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:18618800-18625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:18618800-18625600	Weak transcription	Aorta	Aorta
11	chr19:18618800-18626000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:18618800-18630000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:18618800-18630800	Weak transcription	Thymus	Thymus
14	chr19:18618800-18631000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr19:18619000-18624800	Weak transcription	Fetal Lung	lung
16	chr19:18619000-18625400	Weak transcription	NHEK	skin
17	chr19:18619000-18625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:18619400-18624800	Weak transcription	Esophagus	oesophagus
19	chr19:18619400-18625400	Weak transcription	Stomach Mucosa	stomach
20	chr19:18619600-18625400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:18619800-18625600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr19:18619800-18625800	Weak transcription	HSMM	muscle
23	chr19:18620000-18625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:18620000-18625600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:18620200-18625400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:18620200-18625400	Weak transcription	Brain Substantia Nigra	brain
27	chr19:18620200-18630600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:18620800-18625000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:18620800-18625400	Weak transcription	Brain Hippocampus Middle	brain
30	chr19:18620800-18625400	Weak transcription	Hela-S3	cervix
31	chr19:18621200-18624800	Weak transcription	Spleen	Spleen
32	chr19:18621200-18625400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:18621400-18624800	Weak transcription	Lung	lung
34	chr19:18621400-18624800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr19:18621400-18625200	Weak transcription	K562	blood
36	chr19:18621400-18625600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:18621600-18624800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:18621600-18624800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:18621600-18624800	Weak transcription	Colonic Mucosa	Colon
40	chr19:18621600-18625400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:18621600-18625400	Weak transcription	Fetal Thymus	thymus
42	chr19:18621600-18625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:18621600-18630200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:18622400-18625800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:18622600-18625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:18623000-18626000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:18623200-18624400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:18623200-18624800	Enhancers	HepG2	liver
49	chr19:18623200-18627400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr19:18623400-18625600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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