Variant report

Variant	rs2681369
Chromosome Location	chr19:21705214-21705215
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1466865	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs1566475	0.97[AFR][1000 genomes]
rs2056318	1.00[AFR][1000 genomes]
rs2244472	1.00[YRI][hapmap]
rs2650809	0.81[AFR][1000 genomes]
rs2650826	0.97[AFR][1000 genomes]
rs2650831	0.97[AFR][1000 genomes]
rs2681393	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv963024	chr19:21686690-21722618	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21698400-21710800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:21699400-21705400	ZNF genes & repeats	Dnd41	blood
3	chr19:21699600-21707600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
6	chr19:21700600-21707800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr19:21700600-21707800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:21700800-21705400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:21700800-21706600	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr19:21700800-21706800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:21700800-21707200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:21700800-21711000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr19:21701000-21706200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr19:21701000-21707000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:21701000-21707800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:21701000-21733400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:21701400-21707000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr19:21701400-21707200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:21701400-21707600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:21701400-21707600	ZNF genes & repeats	Fetal Brain Female	brain
21	chr19:21701400-21708000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr19:21701600-21705400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:21701600-21706200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr19:21701600-21706400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:21701600-21706800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:21701600-21707200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr19:21701600-21707200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
28	chr19:21701600-21712600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:21701600-21720400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr19:21702400-21721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:21702600-21706200	Weak transcription	NH-A	brain
32	chr19:21702600-21713400	Weak transcription	Right Ventricle	heart
33	chr19:21702600-21713400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:21702600-21717200	Weak transcription	Psoas Muscle	Psoas
35	chr19:21702800-21707200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:21702800-21713400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:21702800-21717200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:21702800-21718600	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:21702800-21718600	Weak transcription	Fetal Heart	heart
40	chr19:21703000-21706400	Weak transcription	Fetal Brain Male	brain
41	chr19:21703000-21706600	Strong transcription	Placenta	Placenta
42	chr19:21703000-21706600	Weak transcription	Stomach Mucosa	stomach
43	chr19:21703000-21707000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:21703000-21713400	Weak transcription	Brain Anterior Caudate	brain
45	chr19:21703600-21706400	Strong transcription	Osteobl	bone
46	chr19:21703800-21706000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:21704000-21705600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:21704000-21706800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr19:21704000-21706800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:21704000-21707000	Strong transcription	Fetal Lung	lung

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