Variant report

Variant	rs13418449
Chromosome Location	chr2:179741118-179741119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1016800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171295	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171447	0.92[ASN][1000 genomes]
rs10171735	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10187266	1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10195818	0.86[AMR][1000 genomes]
rs10198755	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10210588	0.86[AMR][1000 genomes]
rs1032281	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12616202	0.86[AMR][1000 genomes]
rs13388262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391052	0.86[AMR][1000 genomes]
rs13416260	0.86[AMR][1000 genomes]
rs13419346	0.86[AMR][1000 genomes]
rs13426103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426858	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2220127	0.83[MEX][hapmap]
rs28547002	0.86[AMR][1000 genomes]
rs4893858	0.86[AMR][1000 genomes]
rs4894056	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4894063	0.86[AMR][1000 genomes]
rs57183380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041922	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565966	0.85[JPT][hapmap]

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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
2	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:179730600-179745800	Weak transcription	NHLF	lung
10	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179730800-179745200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:179732000-179745200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
19	chr2:179737000-179744400	Weak transcription	HSMMtube	muscle
20	chr2:179737000-179747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:179737200-179749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:179737400-179741200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:179737800-179744400	Weak transcription	Primary T cells from cord blood	blood
24	chr2:179738200-179742600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:179738200-179743000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:179739400-179741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:179739600-179747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:179739800-179744400	Weak transcription	HMEC	breast
29	chr2:179739800-179744400	Weak transcription	NHEK	skin
30	chr2:179739800-179746800	Weak transcription	Aorta	Aorta
31	chr2:179739800-179747000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:179739800-179747400	Weak transcription	HSMM	muscle
33	chr2:179739800-179755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:179740000-179742800	Active TSS	Psoas Muscle	Psoas
35	chr2:179740000-179745200	Weak transcription	Fetal Heart	heart
36	chr2:179740200-179747400	Weak transcription	Pancreas	Pancrea
37	chr2:179740400-179744400	Weak transcription	Left Ventricle	heart
38	chr2:179740600-179741400	Weak transcription	Brain Germinal Matrix	brain

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