Variant report

Variant	rs2080821
Chromosome Location	chr19:37411009-37411010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10402227	1.00[EUR][1000 genomes]
rs10403877	1.00[EUR][1000 genomes]
rs10410788	1.00[EUR][1000 genomes]
rs10419685	1.00[EUR][1000 genomes]
rs10424415	1.00[EUR][1000 genomes]
rs10426077	1.00[EUR][1000 genomes]
rs10426229	1.00[EUR][1000 genomes]
rs11878527	1.00[EUR][1000 genomes]
rs12459546	1.00[EUR][1000 genomes]
rs2309220	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs487318	1.00[EUR][1000 genomes]
rs491951	1.00[EUR][1000 genomes]
rs500244	1.00[EUR][1000 genomes]
rs500370	1.00[EUR][1000 genomes]
rs510834	1.00[EUR][1000 genomes]
rs519455	1.00[EUR][1000 genomes]
rs526426	1.00[EUR][1000 genomes]
rs529944	1.00[EUR][1000 genomes]
rs535477	1.00[EUR][1000 genomes]
rs547831	1.00[EUR][1000 genomes]
rs562480	1.00[EUR][1000 genomes]
rs56286503	1.00[EUR][1000 genomes]
rs56838197	1.00[EUR][1000 genomes]
rs57427270	0.81[EUR][1000 genomes]
rs57904468	1.00[EUR][1000 genomes]
rs579731	1.00[EUR][1000 genomes]
rs58192768	0.81[EUR][1000 genomes]
rs58960386	0.81[EUR][1000 genomes]
rs59122318	1.00[EUR][1000 genomes]
rs60479919	0.81[EUR][1000 genomes]
rs7252518	0.81[EUR][1000 genomes]
rs7254717	0.81[EUR][1000 genomes]
rs73612926	0.81[EUR][1000 genomes]
rs73626751	1.00[EUR][1000 genomes]
rs73930869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105472	0.81[EUR][1000 genomes]
rs8113719	0.81[EUR][1000 genomes]
rs826272	1.00[EUR][1000 genomes]
rs9304876	1.00[EUR][1000 genomes]
rs9304877	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
10	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37413000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:37408200-37413000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:37408200-37413000	Weak transcription	Aorta	Aorta
4	chr19:37408200-37413000	Weak transcription	Colonic Mucosa	Colon
5	chr19:37408200-37436400	Weak transcription	Fetal Thymus	thymus
6	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
7	chr19:37408400-37411800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:37408400-37411800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:37408400-37412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:37408400-37412800	Weak transcription	HUVEC	blood vessel
11	chr19:37408400-37413000	Weak transcription	Fetal Intestine Large	intestine
12	chr19:37408400-37413000	Weak transcription	Spleen	Spleen
13	chr19:37408400-37417000	Weak transcription	Fetal Kidney	kidney
14	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:37408600-37412600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:37408600-37412800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:37408600-37412800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
19	chr19:37408800-37411200	Strong transcription	Ovary	ovary
20	chr19:37408800-37414800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr19:37408800-37415200	Strong transcription	Left Ventricle	heart
22	chr19:37409000-37412800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:37409000-37413800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:37409000-37413800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:37409000-37413800	Strong transcription	Fetal Muscle Leg	muscle
26	chr19:37409000-37414200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:37409000-37414800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:37409000-37415000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:37409200-37412600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:37409200-37412800	Strong transcription	Adipose Nuclei	Adipose
33	chr19:37409200-37413000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:37409200-37413800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr19:37409200-37413800	Strong transcription	Brain Anterior Caudate	brain
36	chr19:37409200-37414200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:37409200-37414400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr19:37409200-37414600	Strong transcription	Fetal Lung	lung
39	chr19:37409200-37415000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:37409400-37411200	Strong transcription	NHDF-Ad	bronchial
41	chr19:37409400-37413800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:37409400-37414000	Strong transcription	Fetal Brain Female	brain
43	chr19:37409400-37414800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:37409400-37415000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:37409600-37423600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:37409800-37412000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:37409800-37413800	Strong transcription	Dnd41	blood
48	chr19:37409800-37416000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:37409800-37421400	Weak transcription	Fetal Brain Male	brain
50	chr19:37410000-37413000	Weak transcription	Primary B cells from peripheral blood	blood

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