Variant report

Variant	rs60556788
Chromosome Location	chr1:179712398-179712399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179712115..179713115-chr7:100486907..100487582,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1052447	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798718	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798719	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798720	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798721	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913868	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10913870	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10913871	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10913872	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10913874	0.97[ASN][1000 genomes]
rs10913876	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913877	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913878	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12037882	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12047821	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403719	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12403967	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12408874	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12408882	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12562455	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12565113	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12737143	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245195	0.97[ASN][1000 genomes]
rs2245610	0.83[ASN][1000 genomes]
rs2245702	0.83[ASN][1000 genomes]
rs2318386	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2318389	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454193	0.86[ASN][1000 genomes]
rs2454195	0.97[ASN][1000 genomes]
rs2454196	0.97[ASN][1000 genomes]
rs2454197	0.85[ASN][1000 genomes]
rs2487739	0.94[ASN][1000 genomes]
rs2487740	0.97[ASN][1000 genomes]
rs2504032	0.80[ASN][1000 genomes]
rs2504033	0.80[ASN][1000 genomes]
rs2504035	0.83[ASN][1000 genomes]
rs2504038	0.82[ASN][1000 genomes]
rs2504039	0.97[ASN][1000 genomes]
rs2504040	0.97[ASN][1000 genomes]
rs2504041	0.97[ASN][1000 genomes]
rs2504042	0.97[ASN][1000 genomes]
rs2504043	0.83[ASN][1000 genomes]
rs2504048	0.83[ASN][1000 genomes]
rs2504049	0.83[ASN][1000 genomes]
rs2504053	0.90[ASN][1000 genomes]
rs3845381	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3845382	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3845383	0.92[ASN][1000 genomes]
rs3856045	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3909014	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3909015	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4266841	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4269737	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4469684	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4511077	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565670	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4651050	0.94[ASN][1000 genomes]
rs61828370	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663482	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7365663	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][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	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179711400-179714400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:179711600-179712400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr1:179711600-179712400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
4	chr1:179711600-179712400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr1:179711600-179712400	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr1:179711600-179713200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
7	chr1:179711600-179713200	Bivalent Enhancer	Fetal Lung	lung
8	chr1:179711600-179713400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:179711600-179713600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:179711600-179713800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:179711600-179713800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:179711600-179713800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr1:179711600-179714000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr1:179711600-179714000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:179711800-179712400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:179711800-179712400	Bivalent Enhancer	Primary T cells from cord blood	blood
17	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr1:179711800-179712400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
20	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
21	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
22	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
24	chr1:179711800-179712600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:179711800-179712600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr1:179711800-179712800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:179711800-179713000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:179711800-179713200	Active TSS	Right Atrium	heart
29	chr1:179711800-179713400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr1:179711800-179713400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr1:179711800-179713600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:179711800-179713600	Bivalent Enhancer	Spleen	Spleen
33	chr1:179711800-179713800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:179711800-179713800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:179711800-179713800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:179711800-179713800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
37	chr1:179711800-179714000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:179711800-179714000	Bivalent Enhancer	Placenta	Placenta
39	chr1:179711800-179714200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:179712000-179712400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:179712000-179712400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:179712000-179712400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:179712000-179712400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:179712000-179712400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:179712000-179712400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr1:179712000-179712400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr1:179712000-179712400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr1:179712000-179712400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr1:179712000-179712400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr1:179712000-179712400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain

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