Variant report

Variant	rs1678158
Chromosome Location	chr2:231363790-231363791
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	chr2:231356731..231359300-chr2:231361118..231363948,2	K562	blood:
2	chr2:231363361..231365003-chr2:231366282..231368431,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11687978	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1615764	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1649893	1.00[CEU][hapmap]
rs1649895	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1649923	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678152	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678157	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678175	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678184	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678186	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678188	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678196	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678197	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678208	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2559092	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972956	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973329	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55736462	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62193429	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62193432	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6711920	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6712053	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740413	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs699662	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699663	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs836230	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836231	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836233	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836234	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836235	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs856838	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860704	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs866270	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
2	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:231346600-231370000	Weak transcription	K562	blood
4	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
6	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:231356200-231369200	Strong transcription	Fetal Thymus	thymus
9	chr2:231356400-231377000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:231357200-231377800	Weak transcription	Stomach Mucosa	stomach
11	chr2:231357400-231367000	Strong transcription	Liver	Liver
12	chr2:231358200-231366400	Strong transcription	Osteobl	bone
13	chr2:231358400-231365000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:231358400-231365600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:231358400-231369800	Strong transcription	HUVEC	blood vessel
16	chr2:231358400-231376600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:231358600-231377400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:231358800-231364600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:231358800-231366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:231359600-231365600	Strong transcription	HSMM	muscle
21	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:231359800-231368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:231360000-231363800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:231360000-231363800	Weak transcription	NHLF	lung
25	chr2:231360000-231365200	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:231360600-231365200	Weak transcription	NHEK	skin
27	chr2:231361000-231364000	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr2:231361600-231363800	Weak transcription	Small Intestine	intestine
29	chr2:231361800-231364000	Genic enhancers	Primary B cells from cord blood	blood
30	chr2:231361800-231368600	Weak transcription	NHDF-Ad	bronchial
31	chr2:231361800-231374200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:231362000-231365600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:231362000-231376600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:231362000-231376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:231362200-231364200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:231362200-231366800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:231362200-231374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:231362200-231378600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:231362400-231368400	Strong transcription	GM12878-XiMat	blood
41	chr2:231362400-231378400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:231362400-231378600	Strong transcription	Primary T cells from cord blood	blood
43	chr2:231362600-231364600	Strong transcription	HSMMtube	muscle
44	chr2:231362600-231365400	Strong transcription	Left Ventricle	heart
45	chr2:231362600-231367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:231362600-231378600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:231362800-231376600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:231363000-231365200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:231363000-231376600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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