Variant report

Variant	rs11672061
Chromosome Location	chr19:52657049-52657050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10420670	0.86[CHB][hapmap]
rs11671234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35737609	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7250699	1.00[ASN][1000 genomes]
rs73573167	0.86[EUR][1000 genomes]
rs8106820	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2762047	chr19:52647312-52668951	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817856	chr19:52647893-52668697	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
2	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
4	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
5	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:52645200-52659400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:52650400-52658600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:52650800-52657800	Weak transcription	Fetal Brain Male	brain
10	chr19:52651600-52658400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:52651600-52667200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:52652600-52657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:52653000-52657400	Weak transcription	Left Ventricle	heart
14	chr19:52653800-52670600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:52654000-52667200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:52654000-52669000	ZNF genes & repeats	Liver	Liver
17	chr19:52654400-52671600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:52654600-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:52655200-52657800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:52655400-52658400	Weak transcription	Fetal Heart	heart
21	chr19:52655600-52661000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr19:52655600-52665600	ZNF genes & repeats	Fetal Lung	lung
23	chr19:52656200-52664000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr19:52656200-52666400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:52656400-52657200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:52656400-52657200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:52656400-52657800	Strong transcription	Ovary	ovary
28	chr19:52656400-52660600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:52656400-52660800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr19:52656400-52661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:52656400-52662400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:52656400-52664600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr19:52656400-52665800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:52656400-52669000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr19:52656400-52669200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:52656600-52658000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:52656600-52667000	ZNF genes & repeats	Fetal Brain Female	brain
38	chr19:52656600-52668200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr19:52656800-52657200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr19:52656800-52657200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:52656800-52657400	Strong transcription	Brain Germinal Matrix	brain
42	chr19:52656800-52657600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:52656800-52657600	ZNF genes & repeats	Pancreas	Pancrea
44	chr19:52656800-52657800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:52656800-52657800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:52656800-52658600	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:52656800-52660800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr19:52656800-52661000	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr19:52656800-52664600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr19:52656800-52665000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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