Variant report

Variant	rs4251867
Chromosome Location	chr19:44162115-44162116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44161363-44164235	U87	brain:	n/a	n/a
2	POLR2A	chr19:44162109-44163325	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:44161398-44164215	A549	lung:	n/a	n/a
4	POLR2A	chr19:44161363-44164353	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44159905..44164489-chr19:44169153..44174220,5	K562	blood:
2	chr19:44157592..44163338-chr19:44169711..44174691,6	K562	blood:

Variant related genes	Relation type
PLAUR	TF binding region
ENSG00000011422	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4251863	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251865	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4251868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251871	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251876	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251877	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251880	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251882	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251886	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251887	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251889	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251896	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251898	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4251900	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251901	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251903	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251904	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
5	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
6	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
7	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
8	chr19:44149200-44169400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:44150000-44167800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:44150000-44171800	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr19:44150200-44162400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:44150200-44162400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr19:44150200-44171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44150200-44171600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:44150400-44171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:44150400-44171400	Strong transcription	NH-A	brain
17	chr19:44150400-44171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:44150400-44171600	Strong transcription	Osteobl	bone
19	chr19:44151000-44163200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:44151000-44167200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:44151000-44171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:44151600-44171200	Weak transcription	Fetal Lung	lung
23	chr19:44151800-44171600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr19:44153400-44162200	Weak transcription	Left Ventricle	heart
25	chr19:44155400-44162200	Strong transcription	Lung	lung
26	chr19:44155600-44168400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:44155600-44171600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:44155600-44171800	Strong transcription	NHEK	skin
29	chr19:44155800-44162400	Strong transcription	HSMM	muscle
30	chr19:44156000-44168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:44156000-44171200	Strong transcription	NHLF	lung
32	chr19:44156400-44171400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:44156600-44162200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44156600-44163400	Strong transcription	Fetal Stomach	stomach
35	chr19:44156600-44167800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:44156600-44168800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:44156600-44169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:44156600-44171200	Weak transcription	K562	blood
39	chr19:44156600-44171400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:44156600-44171400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:44156600-44171600	Weak transcription	Brain Angular Gyrus	brain
42	chr19:44156600-44171600	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:44156600-44171800	Weak transcription	Stomach Mucosa	stomach
44	chr19:44156800-44162200	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:44156800-44164400	Weak transcription	Fetal Kidney	kidney
46	chr19:44156800-44165000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:44156800-44168800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:44156800-44171400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:44156800-44171400	Weak transcription	Brain Anterior Caudate	brain
50	chr19:44158000-44163400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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