Variant report

Variant	rs12476666
Chromosome Location	chr2:86676365-86676366
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86675470..86677064-chr2:86789067..86791804,2	K562	blood:
2	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
3	chr2:86675009..86676649-chr2:86692152..86693792,2	K562	blood:

Variant related genes	Relation type
ENSG00000228363	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000115548	Chromatin interaction

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

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

rs_ID	r²[population]
rs10185085	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036940	0.82[EUR][1000 genomes]
rs11127040	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127042	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1116326	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11690696	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693352	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12475983	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12714185	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714187	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12995117	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1468039	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1518811	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2030259	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044230	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2139150	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2367575	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4832284	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832285	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832287	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832288	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4832289	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832290	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4832293	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4832294	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6547688	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547689	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547690	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574389	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598058	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950780	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966477	0.81[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86669800-86678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86669800-86679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:86670000-86678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:86670000-86684200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:86670400-86676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:86670400-86693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:86670600-86676400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:86670800-86676400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:86670800-86676600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:86670800-86677200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:86670800-86678600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:86670800-86681000	Weak transcription	Stomach Mucosa	stomach
13	chr2:86670800-86684200	Weak transcription	Colonic Mucosa	Colon
14	chr2:86671000-86676800	Weak transcription	NH-A	brain
15	chr2:86671000-86676800	Weak transcription	Osteobl	bone
16	chr2:86671000-86677200	Weak transcription	Fetal Kidney	kidney
17	chr2:86671000-86725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:86671200-86676400	Weak transcription	NHEK	skin
19	chr2:86671200-86677000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:86671200-86689400	Strong transcription	Primary B cells from cord blood	blood
21	chr2:86671400-86676800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:86671400-86676800	Weak transcription	NHDF-Ad	bronchial
23	chr2:86671400-86677200	Genic enhancers	HepG2	liver
24	chr2:86671400-86677400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:86671400-86678000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:86671400-86678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:86671400-86684200	Weak transcription	Gastric	stomach
28	chr2:86671400-86685600	Weak transcription	Esophagus	oesophagus
29	chr2:86671400-86687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:86671400-86722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:86671400-86725600	Strong transcription	A549	lung
32	chr2:86671600-86676400	Weak transcription	HMEC	breast
33	chr2:86671600-86676800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:86671600-86676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:86671600-86677000	Weak transcription	NHLF	lung
36	chr2:86671600-86680800	Weak transcription	Fetal Brain Male	brain
37	chr2:86671600-86695400	Strong transcription	HSMM	muscle
38	chr2:86671600-86719800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:86671600-86723600	Strong transcription	Fetal Thymus	thymus
40	chr2:86671600-86726000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:86671800-86676600	Weak transcription	HSMMtube	muscle
42	chr2:86671800-86680400	Weak transcription	Right Atrium	heart
43	chr2:86671800-86726600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:86672000-86681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:86672400-86677200	Weak transcription	Fetal Brain Female	brain
46	chr2:86672600-86677200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:86672600-86721200	Strong transcription	Fetal Intestine Large	intestine
48	chr2:86672600-86724200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:86672800-86676400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:86672800-86678800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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