Variant report

Variant	rs31918
Chromosome Location	chr5:14820927-14820928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1004673	0.98[ASN][1000 genomes]
rs13175317	0.99[ASN][1000 genomes]
rs1374080	0.95[ASN][1000 genomes]
rs1550826	0.98[ASN][1000 genomes]
rs17251763	0.83[EUR][1000 genomes]
rs17266101	0.96[ASN][1000 genomes]
rs17318936	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2401985	0.95[ASN][1000 genomes]
rs258221	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs258223	0.92[ASN][1000 genomes]
rs258229	0.96[EUR][1000 genomes]
rs31908	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33101	0.98[ASN][1000 genomes]
rs35554212	0.95[ASN][1000 genomes]
rs35842463	0.95[ASN][1000 genomes]
rs368503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398961	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4569871	0.87[ASN][1000 genomes]
rs4702056	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55954907	0.95[ASN][1000 genomes]
rs61169618	0.96[ASN][1000 genomes]
rs61394862	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6884206	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7715323	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	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
4	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
3	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
7	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
8	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:14812600-14821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:14814000-14824800	Weak transcription	HepG2	liver
11	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:14814200-14827000	Weak transcription	Dnd41	blood
13	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
14	chr5:14814800-14826800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:14816200-14821400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:14816200-14824600	Enhancers	Fetal Brain Male	brain
17	chr5:14817000-14821400	Weak transcription	HUVEC	blood vessel
18	chr5:14817400-14821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:14817400-14829600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:14817400-14842400	Weak transcription	Lung	lung
21	chr5:14817600-14823800	Weak transcription	Liver	Liver
22	chr5:14817800-14821400	Weak transcription	NH-A	brain
23	chr5:14817800-14822200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:14817800-14830400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:14818000-14821000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:14818000-14833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:14819400-14827000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:14819600-14821200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:14819600-14821400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:14819600-14821400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:14819600-14821800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:14819600-14823000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:14819600-14823800	Weak transcription	Fetal Thymus	thymus
34	chr5:14819600-14824800	Weak transcription	Aorta	Aorta
35	chr5:14819600-14825400	Enhancers	Osteobl	bone
36	chr5:14819600-14830600	Weak transcription	HSMM	muscle
37	chr5:14819600-14835400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:14819800-14821200	Weak transcription	Brain Anterior Caudate	brain
39	chr5:14819800-14821400	Weak transcription	Brain Substantia Nigra	brain
40	chr5:14819800-14821600	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:14819800-14827000	Weak transcription	Left Ventricle	heart
42	chr5:14820000-14821000	Weak transcription	NHDF-Ad	bronchial
43	chr5:14820000-14821200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:14820000-14822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:14820000-14822800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:14820000-14830400	Weak transcription	Right Ventricle	heart
47	chr5:14820000-14830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:14820200-14821000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:14820200-14821200	Strong transcription	Primary T cells from cord blood	blood
50	chr5:14820200-14821400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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