Variant report

Variant	rs60087352
Chromosome Location	chr2:172245077-172245078
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172238653..172240742-chr2:172242701..172246260,3	K562	blood:
2	chr2:172016478..172020638-chr2:172243873..172247765,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57396064	0.91[AMR][1000 genomes]
rs58728495	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59745257	0.91[AMR][1000 genomes]
rs60100357	0.91[AMR][1000 genomes]
rs60925959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022904	0.91[AMR][1000 genomes]
rs73022907	0.91[AMR][1000 genomes]
rs73022909	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73022911	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172229400-172246800	Weak transcription	NH-A	brain
3	chr2:172231400-172248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:172231800-172248200	Weak transcription	Esophagus	oesophagus
5	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:172238600-172247200	Weak transcription	NHEK	skin
9	chr2:172238800-172246800	Weak transcription	HMEC	breast
10	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
11	chr2:172239000-172248000	Weak transcription	HepG2	liver
12	chr2:172239000-172250000	Weak transcription	Fetal Stomach	stomach
13	chr2:172239200-172250400	Weak transcription	Fetal Heart	heart
14	chr2:172239200-172250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:172239200-172257400	Weak transcription	K562	blood
16	chr2:172239600-172247600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:172240000-172248000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:172240200-172247800	Weak transcription	NHLF	lung
19	chr2:172240600-172247000	Weak transcription	HSMMtube	muscle
20	chr2:172240600-172251000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:172241400-172247400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:172241600-172246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:172242000-172246800	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:172242400-172247600	Weak transcription	Ovary	ovary
25	chr2:172242600-172248000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:172242800-172249800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:172243200-172248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:172243600-172245400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172243600-172253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:172243800-172246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:172243800-172248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:172243800-172248200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:172244200-172247800	Genic enhancers	GM12878-XiMat	blood
36	chr2:172244400-172246000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:172244400-172248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:172244400-172248400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:172244600-172246800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:172244600-172247000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:172244600-172247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:172244600-172248000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:172244600-172248000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:172244600-172248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:172244600-172248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:172244800-172245400	Enhancers	Adipose Nuclei	Adipose
47	chr2:172245000-172245200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr2:172245000-172247200	Weak transcription	HUVEC	blood vessel
49	chr2:172245000-172248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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