Variant report

Variant	rs7248503
Chromosome Location	chr19:52882993-52882994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52881938..52883510-chr19:52886057..52888201,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10422045	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56955135	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58445916	0.86[EUR][1000 genomes]

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	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
14	esv2750580	chr19:52882430-52885223	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:114 , 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	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
4	chr19:52874200-52886200	Weak transcription	HUVEC	blood vessel
5	chr19:52874200-52886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:52875200-52884600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:52875600-52888600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr19:52876000-52884800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
9	chr19:52876200-52883200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr19:52876200-52883200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:52876200-52884800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr19:52876200-52886200	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr19:52876200-52886600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr19:52876200-52888400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:52876200-52888800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr19:52876200-52889000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr19:52876200-52889000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
20	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
23	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
25	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:52876200-52890800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:52876200-52890800	ZNF genes & repeats	Liver	Liver
28	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:52876400-52883200	Strong transcription	Psoas Muscle	Psoas
35	chr19:52876400-52884000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:52876400-52884200	ZNF genes & repeats	Lung	lung
37	chr19:52876400-52884400	ZNF genes & repeats	Small Intestine	intestine
38	chr19:52876400-52884600	Strong transcription	Dnd41	blood
39	chr19:52876400-52884800	Strong transcription	Brain Hippocampus Middle	brain
40	chr19:52876400-52885600	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:52876400-52885800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:52876400-52886800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:52876400-52888000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:52876400-52890600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:52877000-52885600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:52877400-52883600	Strong transcription	Brain Anterior Caudate	brain
48	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr19:52877600-52883000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:52877600-52883600	Strong transcription	Brain Angular Gyrus	brain

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