Variant report

Variant	rs144044939
Chromosome Location	chr19:40763817-40763818
allele	G/T
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	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40763137..40764665-chr19:40768633..40770903,2	MCF-7	breast:
2	chr19:40754146..40755800-chr19:40763608..40765954,2	K562	blood:
3	chr19:40763181..40767170-chr19:40767340..40771711,5	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40750000-40764000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
3	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
4	chr19:40753200-40764600	Strong transcription	Primary T cells from cord blood	blood
5	chr19:40753800-40764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:40755600-40764600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:40759800-40770600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:40759800-40775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:40760600-40764400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:40761800-40768200	Weak transcription	HSMM	muscle
12	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
13	chr19:40762200-40765600	Weak transcription	HSMMtube	muscle
14	chr19:40762200-40772200	Weak transcription	NH-A	brain
15	chr19:40762400-40768600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:40762600-40764000	Enhancers	Liver	Liver
17	chr19:40762600-40765000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:40762600-40767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:40762600-40768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:40762600-40768200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:40762600-40768200	Weak transcription	Aorta	Aorta
22	chr19:40762600-40768200	Weak transcription	HUVEC	blood vessel
23	chr19:40762800-40764000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:40762800-40766800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:40762800-40767400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:40762800-40768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:40762800-40768200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:40762800-40768200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:40762800-40768200	Weak transcription	HepG2	liver
30	chr19:40762800-40768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:40762800-40768400	Weak transcription	Fetal Kidney	kidney
32	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
34	chr19:40763000-40764400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:40763000-40767400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:40763000-40767600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:40763000-40767600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:40763000-40768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:40763000-40768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:40763000-40768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:40763000-40768200	Weak transcription	Ovary	ovary
42	chr19:40763000-40768200	Weak transcription	NHDF-Ad	bronchial
43	chr19:40763000-40768400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:40763000-40768400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:40763000-40768400	Weak transcription	Brain Angular Gyrus	brain
46	chr19:40763000-40768400	Weak transcription	Brain Germinal Matrix	brain
47	chr19:40763000-40768400	Weak transcription	Brain Substantia Nigra	brain
48	chr19:40763000-40768400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:40763000-40768600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:40763000-40768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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