Variant report

Variant	rs420413
Chromosome Location	chr19:40550466-40550467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	1.00[ASN][1000 genomes]
rs10421829	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10424773	1.00[ASN][1000 genomes]
rs11881677	1.00[ASN][1000 genomes]
rs11882464	1.00[ASN][1000 genomes]
rs11882490	1.00[ASN][1000 genomes]
rs163212	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973959	1.00[CHB][hapmap]
rs17756648	0.83[ASN][1000 genomes]
rs234329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234347	1.00[CHB][hapmap]
rs234348	1.00[CHB][hapmap]
rs234362	1.00[CHB][hapmap]
rs234363	1.00[CHB][hapmap]
rs234367	1.00[CHB][hapmap]
rs234369	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs234373	0.81[AMR][1000 genomes]
rs2531363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542311	0.83[AFR][1000 genomes]
rs28669038	1.00[ASN][1000 genomes]
rs337796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383975	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs399405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517342	1.00[ASN][1000 genomes]
rs520877	1.00[ASN][1000 genomes]
rs526467	1.00[ASN][1000 genomes]
rs532235	1.00[ASN][1000 genomes]
rs563703	1.00[ASN][1000 genomes]
rs589279	1.00[ASN][1000 genomes]
rs589404	1.00[ASN][1000 genomes]
rs60798356	0.87[EUR][1000 genomes]
rs62106576	1.00[ASN][1000 genomes]
rs62106577	1.00[ASN][1000 genomes]
rs62106578	1.00[ASN][1000 genomes]
rs62106580	0.83[ASN][1000 genomes]
rs62106581	0.83[ASN][1000 genomes]
rs62106584	1.00[ASN][1000 genomes]
rs62106585	1.00[ASN][1000 genomes]
rs62106586	1.00[ASN][1000 genomes]
rs62106587	1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[ASN][1000 genomes]
rs62106590	1.00[ASN][1000 genomes]
rs62106591	1.00[ASN][1000 genomes]
rs62106625	1.00[ASN][1000 genomes]
rs62106626	1.00[ASN][1000 genomes]
rs62108934	1.00[ASN][1000 genomes]
rs62110063	1.00[ASN][1000 genomes]
rs623196	1.00[ASN][1000 genomes]
rs636313	1.00[ASN][1000 genomes]
rs649239	1.00[ASN][1000 genomes]
rs6508931	1.00[ASN][1000 genomes]
rs6508932	1.00[ASN][1000 genomes]
rs667850	1.00[ASN][1000 genomes]
rs7250244	1.00[ASN][1000 genomes]
rs7250298	1.00[ASN][1000 genomes]
rs7259136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7260610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73551672	0.83[ASN][1000 genomes]
rs73553618	1.00[ASN][1000 genomes]
rs8103746	1.00[ASN][1000 genomes]
rs8103807	1.00[ASN][1000 genomes]
rs8105260	1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40548400-40552400	Weak transcription	Hela-S3	cervix
2	chr19:40549000-40550600	ZNF genes & repeats	Ovary	ovary
3	chr19:40549000-40551200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:40549000-40551800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:40549000-40553200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr19:40549000-40553200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr19:40549000-40553400	ZNF genes & repeats	Fetal Lung	lung
8	chr19:40549000-40554200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:40549000-40554800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr19:40549000-40556800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:40549000-40556800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:40549000-40559800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:40549200-40550600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:40549200-40550600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:40549200-40550600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:40549200-40550600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:40549200-40550600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40549200-40550600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr19:40549200-40550600	ZNF genes & repeats	Thymus	Thymus
20	chr19:40549200-40551000	Strong transcription	Psoas Muscle	Psoas
21	chr19:40549200-40551200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:40549200-40551200	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr19:40549200-40551400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:40549200-40551400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr19:40549200-40551600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:40549200-40552000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:40549200-40552600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
28	chr19:40549200-40552800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr19:40549200-40552800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr19:40549200-40552800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:40549200-40553000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:40549200-40553200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr19:40549200-40553400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr19:40549200-40553800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr19:40549200-40555200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr19:40549200-40555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:40549200-40556400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:40549200-40556800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:40549200-40556800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:40549200-40556800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:40549200-40556800	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr19:40549200-40556800	ZNF genes & repeats	Fetal Brain Female	brain
45	chr19:40549200-40556800	ZNF genes & repeats	Fetal Kidney	kidney
46	chr19:40549200-40556800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr19:40549200-40557800	ZNF genes & repeats	Liver	Liver
48	chr19:40549400-40550600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr19:40549400-40550600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:40549400-40550600	ZNF genes & repeats	NHEK	skin

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