Variant report

Variant	rs1812658
Chromosome Location	chr5:14829047-14829048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14826927..14829271-chr5:14829445..14831346,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1061813	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11133799	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1117282	0.83[ASN][1000 genomes]
rs12653321	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13155894	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1353258	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2453316	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258218	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258219	0.81[ASN][1000 genomes]
rs258222	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258224	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258225	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258226	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258227	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258228	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs258231	0.81[ASN][1000 genomes]
rs25957	0.81[ASN][1000 genomes]
rs28006	0.81[ASN][1000 genomes]
rs28108	0.81[ASN][1000 genomes]
rs31909	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31912	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs31933	0.81[ASN][1000 genomes]
rs33102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs39636	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs42679	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs42680	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs826352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826357	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs879253	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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:64 , 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	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
6	chr5:14817400-14829600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:14817400-14842400	Weak transcription	Lung	lung
8	chr5:14817800-14830400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:14818000-14833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:14819600-14830600	Weak transcription	HSMM	muscle
11	chr5:14819600-14835400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:14820000-14830400	Weak transcription	Right Ventricle	heart
13	chr5:14820000-14830800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:14820600-14854800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:14820800-14851800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:14821200-14848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:14822000-14838000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:14822200-14830000	Weak transcription	HMEC	breast
19	chr5:14822400-14830200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:14822400-14831200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:14822800-14830400	Weak transcription	Brain Angular Gyrus	brain
22	chr5:14822800-14830600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:14823000-14835200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:14823800-14830200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:14824000-14830200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:14824800-14869600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:14825000-14830400	Weak transcription	Gastric	stomach
28	chr5:14825200-14829400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:14825200-14829400	Weak transcription	Fetal Brain Female	brain
30	chr5:14825200-14830800	Weak transcription	Brain Anterior Caudate	brain
31	chr5:14825200-14833000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:14825400-14829600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:14825400-14830200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:14825400-14830800	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:14825400-14830800	Weak transcription	Brain Substantia Nigra	brain
36	chr5:14825400-14831200	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:14825600-14831000	Weak transcription	Aorta	Aorta
38	chr5:14826600-14841800	Weak transcription	HepG2	liver
39	chr5:14826800-14830800	Strong transcription	Fetal Intestine Small	intestine
40	chr5:14827000-14831400	Enhancers	Fetal Brain Male	brain
41	chr5:14827200-14832200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:14827600-14830000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:14827600-14831600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:14827600-14839000	Weak transcription	Dnd41	blood
45	chr5:14827600-14850000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:14827800-14830200	Weak transcription	Left Ventricle	heart
47	chr5:14827800-14830400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:14827800-14830400	Weak transcription	Right Atrium	heart
49	chr5:14827800-14854600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:14828000-14835000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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