Variant report

Variant	rs60419326
Chromosome Location	chr5:52857791-52857792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56069975	1.00[AFR][1000 genomes]
rs56682747	1.00[AFR][1000 genomes]
rs56848052	1.00[AFR][1000 genomes]
rs57292254	1.00[AFR][1000 genomes]
rs58915856	1.00[AFR][1000 genomes]
rs59431273	1.00[AFR][1000 genomes]
rs61695021	1.00[AFR][1000 genomes]
rs73754254	1.00[AFR][1000 genomes]
rs73754255	1.00[AFR][1000 genomes]
rs73754257	1.00[AFR][1000 genomes]
rs73754258	1.00[AFR][1000 genomes]
rs73754259	0.83[AFR][1000 genomes]
rs73754260	1.00[AFR][1000 genomes]
rs73754266	1.00[AFR][1000 genomes]
rs73754269	1.00[AFR][1000 genomes]
rs73754270	1.00[AFR][1000 genomes]
rs73754272	0.85[AFR][1000 genomes]
rs73754273	1.00[AFR][1000 genomes]
rs73754276	1.00[AFR][1000 genomes]
rs73754277	1.00[AFR][1000 genomes]
rs73754278	1.00[AFR][1000 genomes]
rs73754280	1.00[AFR][1000 genomes]
rs73754283	1.00[AFR][1000 genomes]
rs73754285	1.00[AFR][1000 genomes]
rs73754286	1.00[AFR][1000 genomes]
rs73754287	1.00[AFR][1000 genomes]
rs73754295	1.00[AFR][1000 genomes]
rs73754297	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52855600-52858200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:52855800-52857800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:52855800-52857800	Active TSS	Right Atrium	heart
4	chr5:52855800-52857800	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:52855800-52858000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:52855800-52858200	Active TSS	NHLF	lung
7	chr5:52856000-52857800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:52856000-52857800	Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:52856000-52857800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:52856000-52857800	Active TSS	Aorta	Aorta
11	chr5:52856000-52857800	Active TSS	Left Ventricle	heart
12	chr5:52856000-52857800	Active TSS	Ovary	ovary
13	chr5:52856000-52857800	Active TSS	Psoas Muscle	Psoas
14	chr5:52856000-52857800	Active TSS	Right Ventricle	heart
15	chr5:52856000-52857800	Active TSS	GM12878-XiMat	blood
16	chr5:52856000-52857800	Active TSS	HSMMtube	muscle
17	chr5:52856000-52858000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:52856000-52858000	Active TSS	Brain Germinal Matrix	brain
19	chr5:52856800-52857800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr5:52856800-52857800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:52856800-52857800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr5:52857000-52857800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr5:52857000-52857800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr5:52857000-52857800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:52857000-52857800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:52857000-52857800	Flanking Active TSS	Osteobl	bone
27	chr5:52857000-52858000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr5:52857000-52858200	Flanking Active TSS	Dnd41	blood
29	chr5:52857000-52859400	Weak transcription	Spleen	Spleen
30	chr5:52857200-52857800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:52857200-52857800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:52857200-52857800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:52857200-52857800	Weak transcription	Esophagus	oesophagus
34	chr5:52857200-52857800	Weak transcription	Lung	lung
35	chr5:52857200-52857800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr5:52857200-52857800	Flanking Active TSS	Hela-S3	cervix
37	chr5:52857200-52858000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:52857200-52858000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:52857200-52858000	Flanking Active TSS	NHEK	skin
40	chr5:52857200-52858200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:52857200-52860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:52857200-52860400	Weak transcription	Pancreas	Pancrea
43	chr5:52857200-52872800	Weak transcription	Gastric	stomach
44	chr5:52857200-52872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:52857400-52857800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:52857400-52857800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:52857400-52857800	Enhancers	Primary B cells from cord blood	blood
48	chr5:52857400-52857800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr5:52857400-52857800	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr5:52857400-52857800	Flanking Active TSS	A549	lung

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