Variant report

Variant	rs2118298
Chromosome Location	chr2:209143661-209143662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1023751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10755022	1.00[AMR][1000 genomes]
rs10932258	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs11690008	1.00[AMR][1000 genomes]
rs12464567	1.00[AMR][1000 genomes]
rs12474810	1.00[AMR][1000 genomes]
rs12694099	1.00[AMR][1000 genomes]
rs1348752	1.00[AMR][1000 genomes]
rs1446323	1.00[YRI][hapmap]
rs1529978	1.00[AMR][1000 genomes]
rs1992740	1.00[AMR][1000 genomes]
rs2043718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2043719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2363464	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435421	1.00[AMR][1000 genomes]
rs6435422	1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435424	1.00[AMR][1000 genomes]
rs6435432	1.00[AMR][1000 genomes]
rs6435438	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6706160	1.00[AMR][1000 genomes]
rs6728979	1.00[AMR][1000 genomes]
rs6748431	1.00[AMR][1000 genomes]
rs6755550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593482	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[AMR][1000 genomes]
rs9808144	1.00[AMR][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	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	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
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
2	chr2:209132800-209145000	Weak transcription	Gastric	stomach
3	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
4	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:209134800-209146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:209135200-209148800	Strong transcription	Dnd41	blood
9	chr2:209135800-209149000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:209135800-209150400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:209136000-209149200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:209136000-209149200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:209136000-209149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:209136000-209154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:209136200-209144000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:209136200-209145000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:209136200-209145200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:209136200-209145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:209136200-209146600	Strong transcription	Brain Anterior Caudate	brain
21	chr2:209136200-209148200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:209136200-209148200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:209136200-209148400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:209136200-209148400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:209136200-209148400	Strong transcription	Placenta	Placenta
26	chr2:209136200-209148600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:209136200-209148600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:209136200-209148600	Strong transcription	Liver	Liver
29	chr2:209136200-209148600	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:209136200-209148600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:209136200-209148800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:209136200-209149000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:209136200-209155000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:209136200-209155000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:209136200-209161600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:209137000-209144600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:209137000-209145400	Strong transcription	HSMM	muscle
38	chr2:209137200-209144000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:209137400-209143800	Strong transcription	NHDF-Ad	bronchial
40	chr2:209137600-209148600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:209137800-209145000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:209137800-209148200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:209137800-209148600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:209137800-209148600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:209137800-209149000	Strong transcription	A549	lung
46	chr2:209137800-209155000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:209138000-209143800	Strong transcription	Left Ventricle	heart
48	chr2:209138000-209148800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:209138000-209149200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:209138000-209149200	Strong transcription	HepG2	liver

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