Variant report

Variant	rs557706316
Chromosome Location	chr19:52660997-52660998
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	chr19:52659695..52662598-chr19:52663474..52665682,2	K562	blood:

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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2762047	chr19:52647312-52668951	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817856	chr19:52647893-52668697	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv580007	chr19:52660279-52693277	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52651600-52667200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:52653800-52670600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:52654000-52667200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:52654000-52669000	ZNF genes & repeats	Liver	Liver
5	chr19:52654400-52671600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:52654600-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52655600-52661000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr19:52655600-52665600	ZNF genes & repeats	Fetal Lung	lung
9	chr19:52656200-52664000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr19:52656200-52666400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:52656400-52661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:52656400-52662400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:52656400-52664600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:52656400-52665800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:52656400-52669000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:52656400-52669200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:52656600-52667000	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:52656600-52668200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr19:52656800-52661000	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr19:52656800-52664600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:52656800-52665000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
22	chr19:52656800-52665200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:52656800-52666400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:52656800-52667200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr19:52656800-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:52657000-52663800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr19:52657000-52666400	ZNF genes & repeats	Dnd41	blood
28	chr19:52657000-52666600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:52657400-52663000	ZNF genes & repeats	Left Ventricle	heart
30	chr19:52657600-52661000	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:52657800-52661000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr19:52657800-52661000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:52657800-52661000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr19:52657800-52661000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr19:52658000-52661000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:52658000-52661000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr19:52658000-52661000	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr19:52658000-52664600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr19:52658200-52661000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr19:52658400-52661000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr19:52658400-52662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:52658600-52661000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr19:52658600-52661200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr19:52659000-52661000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:52659000-52663600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:52659000-52667000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
47	chr19:52659000-52668600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:52659400-52663400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:52659400-52671800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr19:52659600-52669000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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