Variant report

Variant	rs2272792
Chromosome Location	chr1:166829522-166829523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166812785..166814397-chr1:166827884..166830540,2	MCF-7	breast:
2	chr1:166827299..166830361-chr1:166843078..166845825,3	MCF-7	breast:
3	chr1:166808419..166810165-chr1:166828402..166830845,2	MCF-7	breast:
4	chr1:166817024..166819556-chr1:166829246..166831714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152382	Chromatin interaction
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10918585	1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs11803833	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs4657608	1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[ASN][1000 genomes]
rs6683488	0.90[ASN][1000 genomes]
rs7544940	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs760536	0.90[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2272792	ALAS2	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166810600-166834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:166810600-166838800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:166810800-166832400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:166810800-166834200	Strong transcription	Fetal Stomach	stomach
6	chr1:166810800-166835200	Strong transcription	K562	blood
7	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:166811000-166835600	Strong transcription	Primary B cells from cord blood	blood
10	chr1:166811200-166834600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
12	chr1:166811400-166829800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr1:166811800-166838600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:166811800-166838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:166812000-166838400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:166812000-166838800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:166812200-166838800	Strong transcription	Fetal Thymus	thymus
18	chr1:166813000-166834200	Strong transcription	Hela-S3	cervix
19	chr1:166813200-166832000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:166813200-166834600	Strong transcription	Placenta	Placenta
21	chr1:166813200-166840600	Strong transcription	Dnd41	blood
22	chr1:166813400-166838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:166813600-166838600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:166813800-166830000	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:166813800-166838400	Strong transcription	Fetal Intestine Large	intestine
27	chr1:166814200-166834000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:166814200-166834600	Strong transcription	Adipose Nuclei	Adipose
29	chr1:166814200-166838800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:166814400-166829600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:166814400-166829800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr1:166814400-166831600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:166814400-166833800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:166814400-166834200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:166814400-166834400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:166814400-166835800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:166814600-166834200	Strong transcription	Osteobl	bone
38	chr1:166814800-166834600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:166814800-166838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:166815000-166833800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:166815200-166838400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:166815400-166838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:166815600-166829600	Strong transcription	HMEC	breast
44	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
45	chr1:166819600-166838400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
47	chr1:166821200-166835800	Strong transcription	Fetal Brain Female	brain
48	chr1:166823000-166834000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:166823200-166834200	Strong transcription	Thymus	Thymus
50	chr1:166824400-166837200	Weak transcription	H9 Cell Line	embryonic stem cell

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