Variant report

Variant	rs57165050
Chromosome Location	chr2:172212303-172212304
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	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11685308	1.00[ASN][1000 genomes]
rs13023417	0.98[ASN][1000 genomes]
rs16859368	0.88[EUR][1000 genomes]
rs16859371	0.88[EUR][1000 genomes]
rs16859373	0.88[EUR][1000 genomes]
rs16859377	0.88[EUR][1000 genomes]
rs16859380	0.88[EUR][1000 genomes]
rs16859386	0.88[EUR][1000 genomes]
rs16859390	0.92[EUR][1000 genomes]
rs16859404	0.92[EUR][1000 genomes]
rs16859405	0.92[EUR][1000 genomes]
rs16859410	0.92[EUR][1000 genomes]
rs1882378	0.92[EUR][1000 genomes]
rs3731984	0.92[EUR][1000 genomes]
rs3731987	1.00[ASN][1000 genomes]
rs3795996	0.92[EUR][1000 genomes]
rs55711751	0.80[AFR][1000 genomes]
rs55715902	0.88[EUR][1000 genomes]
rs55716501	0.92[EUR][1000 genomes]
rs55974181	0.88[EUR][1000 genomes]
rs56065525	0.88[EUR][1000 genomes]
rs56239048	0.96[EUR][1000 genomes]
rs56273218	0.92[EUR][1000 genomes]
rs56302833	0.82[AFR][1000 genomes]
rs61021737	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61502503	1.00[EUR][1000 genomes]
rs6744452	1.00[ASN][1000 genomes]
rs728651	0.85[EUR][1000 genomes]
rs73021048	1.00[EUR][1000 genomes]
rs73976175	0.88[EUR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:172181000-172221600	Weak transcription	K562	blood
3	chr2:172193600-172218200	Weak transcription	HepG2	liver
4	chr2:172203400-172217200	Weak transcription	Small Intestine	intestine
5	chr2:172203800-172218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172204000-172213800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:172204600-172218600	Weak transcription	Ovary	ovary
8	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:172205000-172212600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:172205000-172213000	Weak transcription	A549	lung
11	chr2:172205000-172215200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:172205000-172216600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:172205000-172217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:172205000-172221400	Weak transcription	NHEK	skin
15	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:172205000-172221800	Weak transcription	Osteobl	bone
17	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:172205200-172218400	Weak transcription	Psoas Muscle	Psoas
19	chr2:172205200-172218400	Weak transcription	NHDF-Ad	bronchial
20	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:172211600-172212600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:172211600-172214800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:172211600-172215000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr2:172211600-172216000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:172211800-172212400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:172211800-172212600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:172211800-172212600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:172211800-172212600	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr2:172211800-172213600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr2:172211800-172215000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr2:172211800-172215000	ZNF genes & repeats	Fetal Stomach	stomach
34	chr2:172211800-172215200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:172211800-172215600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172211800-172217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:172212200-172212400	ZNF genes & repeats	Esophagus	oesophagus
38	chr2:172212200-172214600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr2:172212200-172215400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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