Variant report

Variant	rs826351
Chromosome Location	chr5:14838238-14838239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1620976	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812659	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2448493	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453320	0.87[ASN][1000 genomes]
rs258220	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258232	0.87[ASN][1000 genomes]
rs26304	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26306	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs27353	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30613	0.84[ASN][1000 genomes]
rs31907	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs31910	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31911	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31917	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31987	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs31988	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31989	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31990	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs379016	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40402	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs412056	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs42274	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs826355	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826356	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826358	0.92[AFR][1000 genomes];0.98[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
3	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
5	chr5:14817400-14842400	Weak transcription	Lung	lung
6	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14820800-14851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14821200-14848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:14826600-14841800	Weak transcription	HepG2	liver
11	chr5:14827600-14839000	Weak transcription	Dnd41	blood
12	chr5:14827600-14850000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:14827800-14854600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:14828000-14843800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:14828400-14839600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:14828400-14839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:14828600-14846600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:14828800-14856200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:14830400-14852200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:14830400-14866400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:14831000-14838600	Weak transcription	Pancreas	Pancrea
22	chr5:14831000-14870400	Weak transcription	Spleen	Spleen
23	chr5:14831200-14848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:14831600-14845400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:14831600-14849600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:14831800-14838600	Weak transcription	Aorta	Aorta
27	chr5:14831800-14838600	Weak transcription	Right Atrium	heart
28	chr5:14832200-14839800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:14833200-14846800	Weak transcription	Liver	Liver
30	chr5:14833800-14849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:14834200-14839800	Weak transcription	Fetal Heart	heart
32	chr5:14834200-14842400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:14834200-14844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:14834200-14849800	Weak transcription	Right Ventricle	heart
35	chr5:14834400-14842400	Weak transcription	Psoas Muscle	Psoas
36	chr5:14835200-14839000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:14835600-14850000	Weak transcription	Gastric	stomach
38	chr5:14835600-14869000	Weak transcription	NHDF-Ad	bronchial
39	chr5:14835800-14838600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:14835800-14838600	Weak transcription	Left Ventricle	heart
41	chr5:14835800-14838600	Weak transcription	Osteobl	bone
42	chr5:14835800-14838800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:14835800-14839200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:14835800-14840000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:14835800-14840800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:14835800-14842800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:14835800-14844400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:14835800-14844400	Weak transcription	Brain Substantia Nigra	brain
49	chr5:14835800-14845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:14835800-14849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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