Variant report

Variant	rs549382839
Chromosome Location	chr19:19388073-19388074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19382597..19385606-chr19:19387254..19389947,3	K562	blood:
2	chr19:19386675..19389436-chr19:19391039..19392571,2	K562	blood:

Variant related genes	Relation type
ENSG00000213996	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3440259	chr19:19388029-19388198	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:19384000-19388200	Weak transcription	HMEC	breast
3	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
4	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
5	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
7	chr19:19384600-19388400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19384600-19389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:19384800-19390400	Weak transcription	Fetal Brain Male	brain
10	chr19:19384800-19394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
12	chr19:19385000-19388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:19385200-19388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:19385200-19389600	Strong transcription	Fetal Brain Female	brain
15	chr19:19385200-19396400	Weak transcription	NHDF-Ad	bronchial
16	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:19385400-19391000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19385400-19393000	Strong transcription	Brain Germinal Matrix	brain
19	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19385600-19391000	Strong transcription	Brain Angular Gyrus	brain
22	chr19:19385600-19391200	Strong transcription	Brain Anterior Caudate	brain
23	chr19:19385600-19392800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:19385600-19392800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr19:19385600-19393400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:19385600-19395000	Strong transcription	Right Ventricle	heart
27	chr19:19385600-19396400	Strong transcription	Thymus	Thymus
28	chr19:19385600-19401200	Strong transcription	Primary T cells from cord blood	blood
29	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach
31	chr19:19385600-19403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:19385600-19410000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:19385800-19388600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:19385800-19390600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:19385800-19391200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:19385800-19392200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:19385800-19392600	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr19:19385800-19395200	Strong transcription	Esophagus	oesophagus
39	chr19:19385800-19398200	Strong transcription	Left Ventricle	heart
40	chr19:19385800-19398600	Strong transcription	Brain Hippocampus Middle	brain
41	chr19:19385800-19399200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:19385800-19401200	Strong transcription	Adipose Nuclei	Adipose
43	chr19:19385800-19402200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:19385800-19402400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:19385800-19403200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:19385800-19409600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:19385800-19410000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr19:19386000-19389600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:19386000-19391000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:19386000-19392800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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