Variant report

Variant	rs258218
Chromosome Location	chr5:14814071-14814072
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14809897..14811757-chr5:14812423..14814739,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1061813	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11133799	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1117282	0.89[ASN][1000 genomes]
rs12653321	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13155894	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353258	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812658	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2453316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258219	0.91[ASN][1000 genomes]
rs258222	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258224	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258225	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258226	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258227	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258228	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258231	0.91[ASN][1000 genomes]
rs25957	0.89[ASN][1000 genomes]
rs28005	0.90[ASN][1000 genomes]
rs28006	0.89[ASN][1000 genomes]
rs28108	0.91[ASN][1000 genomes]
rs30615	0.84[ASN][1000 genomes]
rs31909	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31912	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31933	0.91[ASN][1000 genomes]
rs33102	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39636	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39916	0.87[ASN][1000 genomes]
rs42679	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42680	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs573116	0.81[ASN][1000 genomes]
rs826352	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826357	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879253	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9790982	0.84[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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
2	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:14809600-14814400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:14809600-14815000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:14810400-14814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:14810600-14814200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:14810600-14814400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:14810600-14814600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr5:14810600-14815400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:14810800-14815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:14810800-14816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:14810800-14816000	Weak transcription	A549	lung
13	chr5:14811000-14814200	Enhancers	Primary T cells from cord blood	blood
14	chr5:14811200-14814400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:14811200-14816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:14811200-14816400	Weak transcription	NHEK	skin
17	chr5:14811400-14816200	Weak transcription	NH-A	brain
18	chr5:14811400-14816400	Weak transcription	NHLF	lung
19	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
20	chr5:14811600-14814200	Enhancers	Dnd41	blood
21	chr5:14811600-14815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:14811600-14815600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:14811600-14815800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:14811600-14815800	Weak transcription	HMEC	breast
25	chr5:14811600-14816200	Weak transcription	Fetal Brain Male	brain
26	chr5:14811600-14816200	Weak transcription	NHDF-Ad	bronchial
27	chr5:14811600-14816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:14811600-14816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:14811600-14816600	Weak transcription	Brain Anterior Caudate	brain
30	chr5:14811600-14816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:14811600-14816800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:14811600-14816800	Weak transcription	Liver	Liver
33	chr5:14811600-14816800	Weak transcription	Lung	lung
34	chr5:14811600-14819400	Weak transcription	Esophagus	oesophagus
35	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
39	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
40	chr5:14811800-14816000	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:14812000-14816000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:14812000-14816000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:14812000-14817400	Weak transcription	Hela-S3	cervix
44	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:14812200-14814800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr5:14812200-14820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:14812600-14814800	Enhancers	Psoas Muscle	Psoas
48	chr5:14812600-14815800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:14812600-14816400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:14812600-14821000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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