Variant report

Variant	rs60601337
Chromosome Location	chr2:172300751-172300752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172289782..172292490-chr2:172300664..172302360,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28453686	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56392714	0.83[AFR][1000 genomes]
rs57136707	0.80[AFR][1000 genomes]
rs59019079	1.00[AMR][1000 genomes]
rs6729749	0.80[AFR][1000 genomes]
rs6730160	0.80[AFR][1000 genomes]
rs73976160	0.80[AFR][1000 genomes]
rs73976164	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976165	0.82[AFR][1000 genomes]
rs73976168	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
3	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
5	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
6	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172292400-172301200	Strong transcription	Placenta	Placenta
11	chr2:172292400-172301800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:172292600-172301200	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr2:172292600-172301400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:172292600-172302000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:172292600-172302600	Strong transcription	Liver	Liver
16	chr2:172292600-172302800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:172292800-172301400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:172292800-172301600	Strong transcription	Adipose Nuclei	Adipose
24	chr2:172292800-172302600	Strong transcription	Fetal Thymus	thymus
25	chr2:172292800-172303000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:172293000-172302000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:172293000-172302600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:172293200-172301600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:172293200-172301600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:172293200-172302400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:172293400-172302600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:172293400-172302600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:172293600-172301000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:172294000-172302800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:172294000-172304200	Weak transcription	Fetal Lung	lung
40	chr2:172294200-172304200	Weak transcription	Fetal Kidney	kidney
41	chr2:172295000-172301200	Strong transcription	Dnd41	blood
42	chr2:172295000-172309600	Strong transcription	HepG2	liver
43	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:172296000-172304400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:172296800-172304200	Weak transcription	NH-A	brain
47	chr2:172297000-172301000	Strong transcription	HMEC	breast
48	chr2:172297000-172302000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:172297000-172313000	Weak transcription	A549	lung
50	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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