Variant report

Variant	rs1054520
Chromosome Location	chr19:37211965-37211966
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11084860	1.00[ASN][1000 genomes]
rs2385654	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385655	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967465	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34642314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45573837	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45625538	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847706	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928559	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928560	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928561	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911649	chr19:37203249-37257192	ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv3508979	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
16	esv3508980	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr19:37194400-37214400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:37194400-37214600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:37194400-37215600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
8	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37194600-37212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
11	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
12	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
19	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr19:37196200-37214600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr19:37196400-37212600	ZNF genes & repeats	Fetal Lung	lung
22	chr19:37196400-37214200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:37196400-37214400	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr19:37196600-37214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:37196800-37214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:37197000-37212600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr19:37197000-37215000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:37197200-37212200	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr19:37199000-37214400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:37199000-37215000	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr19:37200400-37212000	ZNF genes & repeats	Osteobl	bone
33	chr19:37200400-37214400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:37200600-37214200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:37200600-37214600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:37200600-37214800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:37201200-37214400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr19:37201200-37214400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr19:37201200-37215600	ZNF genes & repeats	Fetal Brain Female	brain
40	chr19:37201400-37212600	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr19:37201400-37214000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr19:37201400-37214400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr19:37201400-37214800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
44	chr19:37202000-37214800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr19:37202200-37214400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:37205200-37213200	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr19:37205400-37212600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:37205400-37213200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr19:37205600-37212600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr19:37206600-37217800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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