Variant report

Variant	rs2571160
Chromosome Location	chr19:44952181-44952182
allele	C/G
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:24)

rs_ID	r²[population]
rs2466416	0.88[ASN][1000 genomes]
rs2571157	0.93[EUR][1000 genomes]
rs2571158	0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2571159	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571161	1.00[ASN][1000 genomes]
rs2571162	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2571163	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571164	1.00[ASN][1000 genomes]
rs2571165	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2571166	0.98[ASN][1000 genomes]
rs2571169	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571170	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2571174	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722693	0.97[ASN][1000 genomes]
rs2722697	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2722698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2722699	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722700	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2722702	0.91[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs2734453	0.91[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2734457	0.97[ASN][1000 genomes]
rs35660276	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4802224	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:44944400-44952200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44944600-44952200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:44946400-44953000	ZNF genes & repeats	Aorta	Aorta
5	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
6	chr19:44948400-44952200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
8	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:44951000-44952200	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr19:44951200-44952200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr19:44951200-44953200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:44951400-44952200	Flanking Active TSS	NHEK	skin
13	chr19:44951400-44953200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:44951400-44953400	Active TSS	NHDF-Ad	bronchial
15	chr19:44951600-44952200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:44951600-44952200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:44951600-44952200	Flanking Active TSS	Osteobl	bone
18	chr19:44951600-44952400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr19:44951600-44953000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:44951600-44953000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:44951600-44953000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:44951600-44953000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:44951600-44953000	Active TSS	Brain Angular Gyrus	brain
24	chr19:44951600-44953000	ZNF genes & repeats	HSMM	muscle
25	chr19:44951600-44953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:44951600-44953200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44951800-44952200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:44951800-44952200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:44951800-44952200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:44951800-44952200	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr19:44951800-44952200	Enhancers	Esophagus	oesophagus
32	chr19:44951800-44952200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr19:44951800-44952200	Flanking Active TSS	Fetal Brain Female	brain
34	chr19:44951800-44952200	Flanking Active TSS	Fetal Heart	heart
35	chr19:44951800-44952200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:44951800-44952200	Flanking Active TSS	Fetal Lung	lung
37	chr19:44951800-44952200	Flanking Active TSS	Pancreas	Pancrea
38	chr19:44951800-44952200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr19:44951800-44952200	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr19:44951800-44952200	Flanking Active TSS	Right Atrium	heart
41	chr19:44951800-44952200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr19:44951800-44952200	Flanking Active TSS	Hela-S3	cervix
43	chr19:44951800-44952400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:44951800-44952400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:44951800-44952400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:44951800-44952400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr19:44951800-44952400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr19:44951800-44952400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr19:44951800-44952400	Transcr. at gene 5' and 3'	A549	lung
50	chr19:44951800-44952600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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