Variant report

Variant	rs45603540
Chromosome Location	chr2:113929862-113929863
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	chr2:113919676..113922508-chr2:113929408..113931402,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12711763	0.91[ASN][1000 genomes]
rs13382259	0.91[ASN][1000 genomes]
rs13400502	0.91[ASN][1000 genomes]
rs13419549	0.91[ASN][1000 genomes]
rs3738908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45550936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45560933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542123	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113922400-113930200	Weak transcription	Small Intestine	intestine
3	chr2:113922800-113930400	Weak transcription	Fetal Stomach	stomach
4	chr2:113923000-113930200	Weak transcription	Lung	lung
5	chr2:113923000-113931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:113923000-113932200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:113923000-113956000	Weak transcription	HMEC	breast
9	chr2:113923200-113931600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:113923800-113931400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:113925200-113930000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:113925200-113930800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:113925400-113930400	Weak transcription	K562	blood
15	chr2:113925400-113931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:113925600-113930200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:113926200-113930200	Weak transcription	Colonic Mucosa	Colon
18	chr2:113926600-113930200	Weak transcription	Placenta	Placenta
19	chr2:113926600-113930200	Weak transcription	Gastric	stomach
20	chr2:113926600-113930600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:113926600-113931000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:113926600-113931000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:113926600-113932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:113926800-113930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113926800-113930200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:113926800-113930200	Weak transcription	Dnd41	blood
27	chr2:113926800-113930800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:113926800-113931000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:113926800-113931000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr2:113926800-113931200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:113926800-113931600	Weak transcription	Esophagus	oesophagus
32	chr2:113927000-113930200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:113927000-113930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:113927000-113930200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:113927000-113930200	Weak transcription	Thymus	Thymus
36	chr2:113927000-113930200	Weak transcription	Spleen	Spleen
37	chr2:113927600-113930000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:113927600-113930000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:113927600-113930200	Weak transcription	Liver	Liver
40	chr2:113927600-113930400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:113927600-113930400	Weak transcription	Pancreas	Pancrea
42	chr2:113927600-113936200	Weak transcription	NHEK	skin
43	chr2:113927800-113930000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:113928000-113930000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:113928000-113935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:113928400-113930000	Enhancers	Primary T cells from cord blood	blood
47	chr2:113928400-113930400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:113928400-113930800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:113928400-113931200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:113928600-113931000	Enhancers	HepG2	liver

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