Variant report

Variant	rs1059022
Chromosome Location	chr19:18499151-18499152
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:18495380..18498103-chr19:18498509..18501527,5	MCF-7	breast:
2	chr19:18302811..18308329-chr19:18497869..18501422,5	K562	blood:
3	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
4	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
5	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
6	chr19:18370992..18373477-chr19:18497994..18500594,3	K562	blood:
7	chr19:18498918..18499830-chr19:18529869..18530453,2	K562	blood:
8	chr19:18498833..18499361-chr7:1068004..1068563,2	Hela-S3	cervix:
9	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
10	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
11	chr19:18401875..18403454-chr19:18498375..18500972,2	K562	blood:
12	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
13	chr19:18466710..18468644-chr19:18498710..18500575,2	K562	blood:
14	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
15	chr19:18498925..18499450-chr19:18521128..18522102,2	K562	blood:
16	chr19:18389744..18391956-chr19:18498047..18500341,2	MCF-7	breast:
17	chr19:18497921..18500338-chr19:18535616..18537236,2	K562	blood:
18	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
19	chr19:18432124..18435327-chr19:18497848..18502091,4	K562	blood:
20	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
21	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221167	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000130517	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10401774	1.00[CHB][hapmap]
rs10415765	1.00[CHB][hapmap]
rs10423237	1.00[CHB][hapmap]
rs12979706	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978423	1.00[CHB][hapmap]
rs34937778	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57419676	0.81[EUR][1000 genomes]
rs62122433	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6413435	1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254789	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258308	1.00[ASN][1000 genomes]
rs8101249	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102478	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18496800-18499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:18496800-18499400	Active TSS	A549	lung
3	chr19:18496800-18499600	Active TSS	K562	blood
4	chr19:18497000-18499400	Active TSS	Gastric	stomach
5	chr19:18497000-18499600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:18497000-18499600	Active TSS	HSMMtube	muscle
7	chr19:18497000-18499800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:18497200-18499600	Flanking Active TSS	Placenta	Placenta
9	chr19:18497200-18499600	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr19:18497600-18500600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:18497800-18499400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:18497800-18499600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:18497800-18499800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:18498000-18499800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:18498000-18499800	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:18498200-18499400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:18498200-18499400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:18498200-18499600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:18498200-18499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:18498200-18499600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr19:18498200-18499600	Active TSS	HSMM	muscle
22	chr19:18498400-18499400	Active TSS	Fetal Intestine Large	intestine
23	chr19:18498400-18499400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:18498400-18499800	Flanking Active TSS	Colonic Mucosa	Colon
25	chr19:18498400-18500200	Enhancers	Stomach Mucosa	stomach
26	chr19:18498600-18499200	Active TSS	Liver	Liver
27	chr19:18498600-18499200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:18498600-18499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:18498600-18499600	Active TSS	Hela-S3	cervix
30	chr19:18498600-18499800	Bivalent/Poised TSS	NHEK	skin
31	chr19:18498800-18499200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:18498800-18499200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr19:18498800-18499200	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr19:18498800-18499200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr19:18498800-18499200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr19:18498800-18499200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:18498800-18499200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr19:18498800-18499200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr19:18498800-18499200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
40	chr19:18498800-18499200	Flanking Active TSS	Osteobl	bone
41	chr19:18498800-18499400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr19:18498800-18499400	Bivalent Enhancer	Fetal Thymus	thymus
43	chr19:18498800-18499400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr19:18498800-18499600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr19:18498800-18499800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:18498800-18499800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:18498800-18499800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
48	chr19:18498800-18499800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:18498800-18499800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr19:18498800-18499800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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