Variant report

Variant	rs112064222
Chromosome Location	chr19:52877507-52877508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
12	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv978839	chr19:52876302-52877614	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3372061	chr19:52877189-52902218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
2	chr19:52873800-52877600	Weak transcription	Aorta	Aorta
3	chr19:52873800-52877600	Weak transcription	Gastric	stomach
4	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:52874000-52879000	Weak transcription	Stomach Mucosa	stomach
6	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr19:52874200-52877800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:52874200-52880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:52874200-52882200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:52874200-52886200	Weak transcription	HUVEC	blood vessel
11	chr19:52874200-52886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:52874600-52877600	Weak transcription	Fetal Brain Male	brain
13	chr19:52874800-52880200	Weak transcription	Fetal Heart	heart
14	chr19:52875200-52877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:52875200-52884600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr19:52875400-52877600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:52875600-52888600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr19:52876000-52879000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:52876000-52884800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr19:52876200-52878000	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr19:52876200-52878200	ZNF genes & repeats	GM12878-XiMat	blood
22	chr19:52876200-52878400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:52876200-52879000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:52876200-52879000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:52876200-52879000	Strong transcription	Colon Smooth Muscle	Colon
26	chr19:52876200-52879200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:52876200-52879600	Strong transcription	Osteobl	bone
28	chr19:52876200-52880400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:52876200-52880600	Strong transcription	Fetal Thymus	thymus
30	chr19:52876200-52880600	Strong transcription	Left Ventricle	heart
31	chr19:52876200-52881600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:52876200-52881800	Strong transcription	Brain Substantia Nigra	brain
33	chr19:52876200-52882200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:52876200-52883200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:52876200-52883200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:52876200-52884800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
37	chr19:52876200-52886200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr19:52876200-52886600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:52876200-52888400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr19:52876200-52888800	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr19:52876200-52889000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
45	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
47	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
48	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
50	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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