Variant report

Variant	rs4441448
Chromosome Location	chr2:208841964-208841965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10196408	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10198217	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1037416	0.91[ASN][1000 genomes]
rs10497891	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10497892	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932218	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10932220	0.85[EUR][1000 genomes]
rs10932221	0.84[EUR][1000 genomes]
rs11676872	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11679492	0.96[ASN][1000 genomes]
rs11687058	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11692908	0.91[ASN][1000 genomes]
rs12694097	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005382	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13006024	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011597	0.95[ASN][1000 genomes]
rs13025100	0.97[ASN][1000 genomes]
rs13387203	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13420900	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13421034	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1466185	0.86[EUR][1000 genomes]
rs1545503	0.83[EUR][1000 genomes]
rs16840362	0.80[EUR][1000 genomes]
rs1812697	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1965865	0.85[EUR][1000 genomes]
rs2044971	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084870	0.80[EUR][1000 genomes]
rs2084871	0.80[EUR][1000 genomes]
rs2100348	0.80[EUR][1000 genomes]
rs2100349	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100351	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123294	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123295	0.99[ASN][1000 genomes]
rs2362782	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362783	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362786	0.80[EUR][1000 genomes]
rs34025579	0.85[EUR][1000 genomes]
rs34329895	0.93[ASN][1000 genomes]
rs34354040	0.80[EUR][1000 genomes]
rs35086013	0.99[ASN][1000 genomes]
rs35687108	0.92[ASN][1000 genomes]
rs35726860	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35735821	0.92[ASN][1000 genomes]
rs35783183	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3795911	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3795912	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4021953	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4507086	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673377	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60679550	0.85[EUR][1000 genomes]
rs61116354	0.91[ASN][1000 genomes]
rs62190895	0.92[ASN][1000 genomes]
rs6712527	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718363	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6730216	0.83[ASN][1000 genomes]
rs6731479	0.97[ASN][1000 genomes]
rs6733857	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741366	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757323	0.80[EUR][1000 genomes]
rs7355275	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7560222	0.80[EUR][1000 genomes]
rs7562306	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7570588	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7582996	0.84[EUR][1000 genomes]
rs7583013	0.85[EUR][1000 genomes]
rs7593972	0.98[ASN][1000 genomes]
rs7595734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7595823	0.85[ASN][1000 genomes]
rs7599531	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7608939	0.81[EUR][1000 genomes]
rs7609209	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764299	0.85[EUR][1000 genomes]
rs896636	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs921554	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs921555	0.84[EUR][1000 genomes]
rs930746	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs966317	0.80[EUR][1000 genomes]
rs9679132	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9789442	0.81[EUR][1000 genomes]
rs9789446	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9789586	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9789678	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS 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 target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208834000-208842600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:208834000-208864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:208834800-208865000	Weak transcription	HSMMtube	muscle
5	chr2:208835600-208843200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:208835600-208846600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:208835800-208855400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:208835800-208860800	Weak transcription	Small Intestine	intestine
9	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
10	chr2:208837000-208843000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:208838000-208844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:208838000-208848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:208838800-208843200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:208839000-208848000	Weak transcription	GM12878-XiMat	blood
15	chr2:208839200-208844800	Weak transcription	Fetal Heart	heart
16	chr2:208839400-208848000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:208840000-208842400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:208840000-208863800	Weak transcription	Placenta	Placenta
19	chr2:208840400-208842200	Strong transcription	Fetal Intestine Small	intestine
20	chr2:208840400-208842200	Strong transcription	Thymus	Thymus
21	chr2:208840400-208842400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:208840600-208842200	Strong transcription	Adipose Nuclei	Adipose
23	chr2:208840600-208842400	Strong transcription	Fetal Intestine Large	intestine
24	chr2:208840800-208842000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr2:208840800-208842000	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:208840800-208842200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:208840800-208842200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:208840800-208842200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:208840800-208842200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:208840800-208842200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:208840800-208842200	Strong transcription	Liver	Liver
32	chr2:208840800-208842200	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:208840800-208842200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:208840800-208842200	Strong transcription	Fetal Brain Female	brain
35	chr2:208840800-208842200	Strong transcription	Ovary	ovary
36	chr2:208840800-208842400	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr2:208840800-208842400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:208840800-208842400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:208840800-208842400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:208840800-208842600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:208840800-208843600	Strong transcription	Primary T cells from cord blood	blood
42	chr2:208841000-208842000	Strong transcription	Fetal Thymus	thymus
43	chr2:208841000-208842200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr2:208841000-208842200	Strong transcription	Brain Substantia Nigra	brain
45	chr2:208841000-208842200	Strong transcription	Fetal Lung	lung
46	chr2:208841000-208842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:208841000-208842400	Strong transcription	Primary B cells from cord blood	blood
48	chr2:208841000-208842400	Strong transcription	Brain Germinal Matrix	brain
49	chr2:208841200-208842200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:208841200-208842200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links