Variant report

Variant	rs4251904
Chromosome Location	chr19:44157776-44157777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44156348..44158247-chr19:44169871..44172747,3	K562	blood:
2	chr19:44155198..44158980-chr19:44160763..44164437,5	K562	blood:
3	chr19:43949852..43952277-chr19:44156357..44158096,2	K562	blood:
4	chr19:44156353..44159342-chr19:44166009..44168275,2	K562	blood:
5	chr19:44157592..44163338-chr19:44169711..44174691,6	K562	blood:
6	chr19:44151521..44153572-chr19:44155815..44158132,2	MCF-7	breast:
7	chr19:44120824..44125564-chr19:44154313..44157920,5	K562	blood:

Variant related genes	Relation type
ENSG00000264133	Chromatin interaction
ENSG00000131116	Chromatin interaction
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	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251865	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4251867	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251880	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251887	1.00[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	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4251903	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4251905	0.98[AFR][1000 genomes];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:107 , 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	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
6	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
7	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
8	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
9	chr19:44147800-44159600	Weak transcription	HSMMtube	muscle
10	chr19:44148000-44159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:44148200-44158800	Weak transcription	Small Intestine	intestine
12	chr19:44148400-44160000	Weak transcription	Fetal Thymus	thymus
13	chr19:44148800-44158800	Weak transcription	Thymus	Thymus
14	chr19:44149200-44169400	Weak transcription	Fetal Intestine Large	intestine
15	chr19:44149600-44159000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr19:44150000-44167800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:44150000-44171800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr19:44150200-44162400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr19:44150200-44162400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr19:44150200-44171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:44150200-44171600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:44150400-44171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:44150400-44171400	Strong transcription	NH-A	brain
24	chr19:44150400-44171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:44150400-44171600	Strong transcription	Osteobl	bone
26	chr19:44150800-44160000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:44151000-44159000	Weak transcription	Fetal Intestine Small	intestine
28	chr19:44151000-44163200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:44151000-44167200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:44151000-44171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:44151600-44159600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44151600-44171200	Weak transcription	Fetal Lung	lung
33	chr19:44151800-44171600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr19:44153200-44158800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:44153400-44158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:44153400-44158200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:44153400-44158200	Weak transcription	Right Ventricle	heart
38	chr19:44153400-44158400	Weak transcription	Aorta	Aorta
39	chr19:44153400-44158600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:44153400-44158600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:44153400-44159200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:44153400-44159400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:44153400-44159600	Weak transcription	Fetal Muscle Leg	muscle
44	chr19:44153400-44159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:44153400-44159600	Weak transcription	NHDF-Ad	bronchial
46	chr19:44153400-44162200	Weak transcription	Left Ventricle	heart
47	chr19:44153600-44158600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:44153600-44158600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:44153800-44158400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:44155400-44162200	Strong transcription	Lung	lung

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