Variant report

Variant	rs142560869
Chromosome Location	chr19:52796016-52796017
allele	A/G
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	chr19:52794988-52796891	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52780362..52782762-chr19:52795310..52797361,2	K562	blood:

Variant related genes	Relation type
ZNF480	TF binding region
ENSG00000196214	Chromatin interaction

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	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	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52774200-52797400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:52774200-52799600	Weak transcription	Hela-S3	cervix
3	chr19:52780400-52800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:52784600-52796400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:52784600-52796800	ZNF genes & repeats	Liver	Liver
6	chr19:52785200-52796400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:52785400-52796400	Strong transcription	Adipose Nuclei	Adipose
8	chr19:52785400-52797400	Strong transcription	Brain Germinal Matrix	brain
9	chr19:52787000-52797000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:52788000-52796200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:52788400-52799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52788800-52800000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:52789200-52799400	Weak transcription	Pancreas	Pancrea
14	chr19:52790800-52796400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:52791800-52799600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:52792200-52800400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:52792600-52797800	ZNF genes & repeats	A549	lung
18	chr19:52794000-52796400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:52794200-52799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:52794400-52796200	Weak transcription	Colonic Mucosa	Colon
21	chr19:52794400-52799600	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:52794400-52799600	Weak transcription	Esophagus	oesophagus
23	chr19:52794400-52799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:52794400-52799600	Weak transcription	Stomach Mucosa	stomach
25	chr19:52794400-52799600	Weak transcription	HMEC	breast
26	chr19:52794400-52799600	Weak transcription	NH-A	brain
27	chr19:52794600-52799400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:52794600-52799600	Weak transcription	Primary T cells from cord blood	blood
29	chr19:52794600-52799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:52794600-52799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:52794600-52799600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:52794600-52799600	Weak transcription	Brain Anterior Caudate	brain
33	chr19:52794600-52799600	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:52794600-52799600	Weak transcription	Brain Substantia Nigra	brain
35	chr19:52794600-52799600	Weak transcription	Fetal Heart	heart
36	chr19:52794600-52799600	Weak transcription	Fetal Kidney	kidney
37	chr19:52794600-52799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:52794600-52799600	Weak transcription	HepG2	liver
39	chr19:52794600-52799600	Weak transcription	HUVEC	blood vessel
40	chr19:52794600-52799600	Weak transcription	NHDF-Ad	bronchial
41	chr19:52794600-52799600	Weak transcription	NHEK	skin
42	chr19:52794600-52799800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:52794600-52799800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:52794600-52799800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:52794800-52796200	Strong transcription	Fetal Stomach	stomach
46	chr19:52794800-52796400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:52794800-52796400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:52794800-52798400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:52794800-52799400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:52794800-52799600	Weak transcription	H9 Cell Line	embryonic stem cell

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