Variant report

Variant	rs4251863
Chromosome Location	chr19:44162297-44162298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44162195-44164085	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:44161363-44164235	U87	brain:	n/a	n/a
3	POLR2A	chr19:44162166-44163294	Hela-S3	cervix:	n/a	n/a
4	YY1	chr19:44162203-44162464	GM12878	blood:	n/a	n/a
5	YY1	chr19:44162174-44162522	GM12892	blood:	n/a	n/a
6	YY1	chr19:44162237-44162452	K562	blood:	n/a	n/a
7	POLR2A	chr19:44162109-44163325	Hela-S3	cervix:	n/a	n/a
8	YY1	chr19:44162142-44162549	A549	lung:	n/a	n/a
9	YY1	chr19:44162233-44162453	A549	lung:	n/a	n/a
10	YY1	chr19:44162170-44162476	HCT-116	colon:	n/a	n/a
11	YY1	chr19:44162232-44162481	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:44161398-44164215	A549	lung:	n/a	n/a
13	POLR2A	chr19:44161363-44164353	U87	brain:	n/a	n/a
14	POLR2A	chr19:44162231-44163290	HL-60	blood:	n/a	n/a
15	YY1	chr19:44162235-44162497	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

No data

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]
rs4251865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4251867	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251868	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251869	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251871	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251873	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251875	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251876	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251877	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251880	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251882	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251886	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251887	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251889	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251896	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4251900	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251901	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251903	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251904	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251905	0.89[AFR][1000 genomes];0.93[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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
4	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
5	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
6	chr19:44149200-44169400	Weak transcription	Fetal Intestine Large	intestine
7	chr19:44150000-44167800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:44150000-44171800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr19:44150200-44162400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr19:44150200-44162400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr19:44150200-44171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:44150200-44171600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:44150400-44171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:44150400-44171400	Strong transcription	NH-A	brain
15	chr19:44150400-44171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:44150400-44171600	Strong transcription	Osteobl	bone
17	chr19:44151000-44163200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:44151000-44167200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:44151000-44171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:44151600-44171200	Weak transcription	Fetal Lung	lung
21	chr19:44151800-44171600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr19:44155600-44168400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:44155600-44171600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:44155600-44171800	Strong transcription	NHEK	skin
25	chr19:44155800-44162400	Strong transcription	HSMM	muscle
26	chr19:44156000-44168000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:44156000-44171200	Strong transcription	NHLF	lung
28	chr19:44156400-44171400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:44156600-44163400	Strong transcription	Fetal Stomach	stomach
30	chr19:44156600-44167800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:44156600-44168800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:44156600-44169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:44156600-44171200	Weak transcription	K562	blood
34	chr19:44156600-44171400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:44156600-44171400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:44156600-44171600	Weak transcription	Brain Angular Gyrus	brain
37	chr19:44156600-44171600	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:44156600-44171800	Weak transcription	Stomach Mucosa	stomach
39	chr19:44156800-44164400	Weak transcription	Fetal Kidney	kidney
40	chr19:44156800-44165000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:44156800-44168800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:44156800-44171400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:44156800-44171400	Weak transcription	Brain Anterior Caudate	brain
44	chr19:44158000-44163400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:44158200-44163200	Strong transcription	Colonic Mucosa	Colon
46	chr19:44158400-44164800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:44158600-44166200	Strong transcription	HMEC	breast
48	chr19:44158800-44163600	Strong transcription	Gastric	stomach
49	chr19:44158800-44170400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:44159000-44169400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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