Variant report

Variant	rs7253217
Chromosome Location	chr19:56954103-56954104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11883038	0.91[ASN][1000 genomes]
rs1981674	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs35400304	0.91[ASN][1000 genomes]
rs73064033	0.91[ASN][1000 genomes]
rs73064054	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917649	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]

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	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
2	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:56946800-56956000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:56948200-56955800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr19:56948200-56956000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:56948600-56954400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:56949400-56955800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
8	chr19:56949400-56956000	ZNF genes & repeats	Brain Anterior Caudate	brain
9	chr19:56949400-56956000	ZNF genes & repeats	Brain Hippocampus Middle	brain
10	chr19:56949600-56955800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:56949800-56956000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:56950000-56955400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:56950200-56955800	ZNF genes & repeats	Fetal Brain Male	brain
14	chr19:56950200-56956000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:56950400-56955800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56950400-56956000	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:56950600-56955800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr19:56950600-56956000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr19:56950800-56956000	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:56951000-56955800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
21	chr19:56951200-56956000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:56951600-56955400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:56951600-56955600	ZNF genes & repeats	Fetal Kidney	kidney
24	chr19:56951600-56958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:56952000-56954600	ZNF genes & repeats	Left Ventricle	heart
26	chr19:56952000-56955800	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr19:56952200-56955800	ZNF genes & repeats	Fetal Lung	lung
28	chr19:56952200-56956000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr19:56952200-56956000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr19:56952200-56956000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:56952200-56956000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:56952400-56954200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:56952400-56954200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr19:56952400-56955000	ZNF genes & repeats	Fetal Heart	heart
35	chr19:56952400-56955800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:56952400-56955800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr19:56952400-56955800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr19:56952400-56955800	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr19:56952400-56955800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr19:56952600-56955000	ZNF genes & repeats	HSMM	muscle
41	chr19:56952600-56955800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr19:56952600-56955800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:56952600-56955800	ZNF genes & repeats	Brain Angular Gyrus	brain
44	chr19:56952600-56955800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:56952600-56955800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr19:56952600-56955800	ZNF genes & repeats	Right Ventricle	heart
47	chr19:56952600-56956000	ZNF genes & repeats	Ovary	ovary
48	chr19:56952800-56954200	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr19:56952800-56956000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr19:56953000-56955600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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