Variant report

Variant	rs57775770
Chromosome Location	chr2:172687731-172687732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172684640..172686879-chr2:172687489..172690776,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12053046	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12614709	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619041	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12620126	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622772	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12622895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17581361	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17581439	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17615262	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2176465	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3736499	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765166	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770448	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770449	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770455	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821093	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55864623	0.85[EUR][1000 genomes]
rs55957712	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56275355	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57718990	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58540694	0.84[ASN][1000 genomes]
rs62182370	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182372	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182373	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62182374	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182392	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72881938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72885532	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72885545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72889848	0.87[AMR][1000 genomes]
rs7584258	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
5	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:172675400-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:172680800-172688800	Weak transcription	Psoas Muscle	Psoas
8	chr2:172681000-172695000	Weak transcription	Pancreas	Pancrea
9	chr2:172681800-172693800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:172682000-172694000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:172683400-172693800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr2:172683400-172694400	Strong transcription	Primary T cells from cord blood	blood
13	chr2:172683600-172693800	Strong transcription	Left Ventricle	heart
14	chr2:172683800-172694200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:172684400-172689000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:172684400-172694000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:172684600-172688000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:172684600-172691600	Strong transcription	Ovary	ovary
19	chr2:172685000-172691200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr2:172685200-172689400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:172685200-172691600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr2:172685400-172688000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:172685400-172688200	Weak transcription	Fetal Intestine Large	intestine
24	chr2:172685400-172691600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr2:172685600-172693000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172685600-172694600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:172685600-172694800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:172685800-172690400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:172685800-172691400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr2:172685800-172694000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:172686000-172689000	Weak transcription	Stomach Mucosa	stomach
32	chr2:172686000-172694000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:172686200-172688400	Strong transcription	Fetal Lung	lung
34	chr2:172686200-172689400	Weak transcription	Spleen	Spleen
35	chr2:172686200-172690200	Strong transcription	Right Ventricle	heart
36	chr2:172686200-172691800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr2:172686200-172698800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:172686400-172688600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:172686800-172687800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:172686800-172693600	Strong transcription	Colon Smooth Muscle	Colon
41	chr2:172687000-172694600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:172687200-172688000	Strong transcription	Osteobl	bone
43	chr2:172687200-172688200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:172687200-172688200	Strong transcription	Aorta	Aorta
45	chr2:172687200-172688200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:172687200-172688600	ZNF genes & repeats	Fetal Stomach	stomach
47	chr2:172687200-172689600	ZNF genes & repeats	Fetal Brain Female	brain
48	chr2:172687200-172689800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:172687200-172690000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:172687200-172690200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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