Variant report

Variant	rs202112086
Chromosome Location	chr19:52869781-52869782
allele	C/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	ZNF274	chr19:52869511-52870017	GM12878	blood:	n/a	n/a
2	ZNF274	chr19:52868821-52870185	NT2-D1	testis:	n/a	n/a
3	ZNF274	chr19:52869262-52870023	HepG2	liver:	n/a	n/a
4	SETDB1	chr19:52869255-52870101	U2OS	brain:	n/a	n/a
5	ZNF274	chr19:52869209-52870171	GM08714	blood:	n/a	n/a
6	KAP1	chr19:52869338-52869993	HEK293	kidney:	n/a	n/a
7	ZNF274	chr19:52869158-52870207	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF274	chr19:52869362-52870118	K562	blood:	n/a	n/a
9	ZNF274	chr19:52869070-52870243	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF880	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52848400-52870400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:52849800-52872200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:52856800-52870200	ZNF genes & repeats	Ovary	ovary
6	chr19:52858800-52871800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:52861800-52872200	ZNF genes & repeats	Fetal Lung	lung
8	chr19:52862000-52870200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:52862000-52871000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:52862000-52871000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:52862000-52871200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:52862600-52871400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:52862800-52870600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
14	chr19:52864200-52870600	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr19:52865200-52870200	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr19:52865200-52871200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:52865200-52875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:52865600-52871200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:52866000-52871200	ZNF genes & repeats	Dnd41	blood
20	chr19:52866400-52870400	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr19:52866600-52870200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr19:52866600-52870200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr19:52866600-52872200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:52866600-52875400	ZNF genes & repeats	Liver	Liver
25	chr19:52866800-52869800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:52866800-52870200	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr19:52866800-52871200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:52866800-52871200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:52867200-52872400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:52867600-52870000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr19:52867600-52871000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr19:52867600-52871200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr19:52867600-52872200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr19:52867800-52869800	ZNF genes & repeats	Lung	lung
35	chr19:52867800-52870000	ZNF genes & repeats	Aorta	Aorta
36	chr19:52867800-52870000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:52867800-52870000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr19:52867800-52870000	ZNF genes & repeats	Fetal Brain Male	brain
39	chr19:52867800-52870200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr19:52867800-52870200	ZNF genes & repeats	Left Ventricle	heart
41	chr19:52867800-52870600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr19:52867800-52871400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:52867800-52872200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:52868000-52870200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr19:52868000-52870600	ZNF genes & repeats	Placenta	Placenta
46	chr19:52868200-52870000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:52868200-52870200	ZNF genes & repeats	Right Ventricle	heart
48	chr19:52868200-52871200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:52868200-52871200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr19:52868400-52869800	ZNF genes & repeats	Primary T cells from cord blood	blood

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