Variant report

Variant	rs2280781
Chromosome Location	chr1:154540468-154540469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
2	chr1:154540365..154542242-chr1:154542275..154545035,2	K562	blood:
3	chr1:154538647..154541547-chr1:154599506..154601498,3	K562	blood:
4	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:
5	chr1:154539579..154545447-chr1:154547241..154552773,6	K562	blood:

Variant related genes	Relation type
ENSG00000160710	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000233875	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4074436	0.85[EUR][1000 genomes]
rs4845378	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4845649	0.83[EUR][1000 genomes]
rs4845652	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55908418	0.90[EUR][1000 genomes]
rs61811370	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61811371	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61811372	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6427741	0.83[ASN][1000 genomes]
rs6660775	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72698182	0.90[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154539200-154540600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:154539400-154540800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:154539400-154540800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:154539600-154540800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:154539600-154540800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:154539600-154541000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:154539600-154541400	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:154539800-154540600	Active TSS	Brain Angular Gyrus	brain
9	chr1:154539800-154540800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:154539800-154540800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:154539800-154541000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:154539800-154541000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:154539800-154541000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:154539800-154541000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr1:154539800-154541200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:154539800-154541400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:154540000-154540600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:154540000-154540600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
19	chr1:154540000-154540600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr1:154540000-154540600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr1:154540000-154540600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr1:154540000-154540600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:154540000-154540600	Bivalent/Poised TSS	HepG2	liver
24	chr1:154540000-154540600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr1:154540000-154540600	Bivalent/Poised TSS	NHEK	skin
26	chr1:154540000-154540800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:154540000-154540800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:154540000-154540800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:154540000-154540800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:154540000-154540800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr1:154540000-154540800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:154540000-154540800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr1:154540000-154540800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
34	chr1:154540000-154540800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:154540000-154540800	Enhancers	Brain Substantia Nigra	brain
36	chr1:154540000-154540800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr1:154540000-154540800	Active TSS	Fetal Brain Male	brain
38	chr1:154540000-154540800	Active TSS	Fetal Brain Female	brain
39	chr1:154540000-154540800	Bivalent Enhancer	Fetal Thymus	thymus
40	chr1:154540000-154540800	Enhancers	Gastric	stomach
41	chr1:154540000-154540800	Enhancers	Left Ventricle	heart
42	chr1:154540000-154540800	Enhancers	Pancreas	Pancrea
43	chr1:154540000-154540800	Bivalent Enhancer	NH-A	brain
44	chr1:154540000-154541000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:154540000-154541000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:154540000-154541000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:154540000-154541000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:154540000-154541000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:154540000-154541000	Enhancers	Fetal Heart	heart
50	chr1:154540000-154541000	Bivalent Enhancer	Placenta	Placenta

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