Variant report

Variant	rs2278142
Chromosome Location	chr4:54967709-54967710
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	chr4:54967560..54969215-chr4:55017035..55019730,2	K562	blood:
2	chr4:54966084..54968498-chr4:54968560..54970883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221219	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1132998	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1158401	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1158402	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278141	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3194383	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4293842	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554150	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654979	1.00[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7655181	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7676331	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594202	chr4:54943432-55011123	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv594203	chr4:54960005-55030375	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54964800-54967800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:54965200-54968000	Bivalent Enhancer	Placenta	Placenta
3	chr4:54965200-54968200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:54965200-54968200	Bivalent Enhancer	Lung	lung
5	chr4:54965400-54968000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
6	chr4:54965400-54968200	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr4:54965400-54968200	Bivalent Enhancer	Fetal Thymus	thymus
8	chr4:54965600-54968000	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:54965600-54968000	Bivalent Enhancer	Fetal Heart	heart
10	chr4:54965600-54968200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:54965600-54968200	Bivalent Enhancer	Esophagus	oesophagus
12	chr4:54965600-54968400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr4:54965800-54967800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr4:54965800-54968000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr4:54965800-54968000	Enhancers	Gastric	stomach
16	chr4:54965800-54968200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:54965800-54968200	Enhancers	Pancreas	Pancrea
18	chr4:54966000-54970400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr4:54966200-54967800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
20	chr4:54966200-54967800	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr4:54966200-54968000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr4:54966200-54968000	Bivalent Enhancer	Fetal Lung	lung
23	chr4:54966200-54968200	Flanking Bivalent TSS/Enh	NHEK	skin
24	chr4:54966400-54967800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:54966400-54968000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr4:54966600-54967800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr4:54966600-54968000	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr4:54966600-54968200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr4:54966600-54968800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:54966800-54968000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:54966800-54968000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr4:54966800-54968000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr4:54967000-54967800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr4:54967000-54967800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
35	chr4:54967000-54968000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:54967000-54968000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr4:54967000-54968000	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr4:54967000-54968400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr4:54967200-54967800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr4:54967200-54967800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr4:54967200-54967800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:54967200-54967800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:54967200-54967800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr4:54967200-54967800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr4:54967200-54967800	Bivalent Enhancer	HepG2	liver
46	chr4:54967200-54967800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
47	chr4:54967200-54968000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr4:54967200-54968000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:54967200-54968200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr4:54967200-54968200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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