Variant report

Variant	rs57183380
Chromosome Location	chr2:179739104-179739105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1016800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171295	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171447	0.92[ASN][1000 genomes]
rs10171735	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10187266	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10192958	0.81[EUR][1000 genomes]
rs10195818	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10198755	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10210588	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1032281	0.86[AMR][1000 genomes]
rs12616202	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13388262	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391052	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13416260	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13418449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419346	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13426103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426858	0.86[AMR][1000 genomes]
rs28547002	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4893858	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4894056	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4894063	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73041922	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	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:39 , 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	chr2:179728800-179739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:179729600-179739400	Weak transcription	Aorta	Aorta
10	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
11	chr2:179730600-179739400	Weak transcription	Pancreas	Pancrea
12	chr2:179730600-179739600	Weak transcription	Right Atrium	heart
13	chr2:179730600-179745800	Weak transcription	NHLF	lung
14	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:179730800-179745200	Weak transcription	Primary B cells from cord blood	blood
16	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:179732000-179745200	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
23	chr2:179735800-179739400	Weak transcription	Left Ventricle	heart
24	chr2:179735800-179739400	Weak transcription	HSMM	muscle
25	chr2:179736600-179739600	Weak transcription	Fetal Heart	heart
26	chr2:179737000-179744400	Weak transcription	HSMMtube	muscle
27	chr2:179737000-179747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:179737200-179749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:179737400-179741200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:179737800-179744400	Weak transcription	Primary T cells from cord blood	blood
31	chr2:179738200-179739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:179738200-179742600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr2:179738200-179743000	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:179738400-179739600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:179738400-179739600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:179738400-179739800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:179738400-179739800	Enhancers	NHEK	skin
38	chr2:179738600-179739600	Active TSS	Psoas Muscle	Psoas
39	chr2:179738800-179739800	Enhancers	HMEC	breast

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