Variant report

Variant	rs538889036
Chromosome Location	chr19:41326055-41326056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41252878..41254657-chr19:41324128..41326565,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv961219	chr19:41324679-41328254	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
3	chr19:41322600-41330600	Enhancers	Placenta	Placenta
4	chr19:41323200-41326200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:41324400-41327200	Enhancers	K562	blood
6	chr19:41324600-41328200	Weak transcription	Gastric	stomach
7	chr19:41324600-41328200	Weak transcription	Left Ventricle	heart
8	chr19:41324600-41328200	Weak transcription	Lung	lung
9	chr19:41324600-41328400	Weak transcription	Fetal Lung	lung
10	chr19:41324600-41328600	Weak transcription	NH-A	brain
11	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:41324600-41332600	Weak transcription	NHLF	lung
15	chr19:41324800-41326200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:41324800-41326200	Enhancers	Primary B cells from peripheral blood	blood
17	chr19:41324800-41326200	Enhancers	Primary T cells from cord blood	blood
18	chr19:41324800-41326200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:41324800-41326200	Enhancers	Adipose Nuclei	Adipose
20	chr19:41324800-41327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:41324800-41328000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:41324800-41328200	Weak transcription	HepG2	liver
23	chr19:41324800-41328800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:41324800-41332600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:41324800-41332600	Weak transcription	Fetal Brain Male	brain
26	chr19:41324800-41332600	Weak transcription	Fetal Brain Female	brain
27	chr19:41324800-41332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:41324800-41332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:41324800-41332800	Weak transcription	Esophagus	oesophagus
30	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
31	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
32	chr19:41325000-41327800	Weak transcription	Right Ventricle	heart
33	chr19:41325000-41328000	Weak transcription	Ovary	ovary
34	chr19:41325000-41328000	Weak transcription	Pancreas	Pancrea
35	chr19:41325000-41328600	Weak transcription	Right Atrium	heart
36	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:41325200-41328000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:41325200-41328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:41325400-41327600	Weak transcription	Fetal Intestine Small	intestine
40	chr19:41325400-41329800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr19:41325600-41328000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:41325600-41328600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:41325800-41326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:41325800-41326200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr19:41325800-41327800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:41325800-41327800	Weak transcription	Fetal Intestine Large	intestine
48	chr19:41325800-41328000	Weak transcription	Liver	Liver
49	chr19:41325800-41328000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:41325800-41328200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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