Variant report

Variant	rs1333972
Chromosome Location	chr1:79111142-79111143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:79107167-79118433	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:79108863-79114544	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IFI44	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11804167	0.86[JPT][hapmap]
rs34566244	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1333972	IFI44	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79089800-79115000	Weak transcription	Small Intestine	intestine
2	chr1:79094600-79115200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:79099200-79112800	Weak transcription	Lung	lung
4	chr1:79101400-79115400	Weak transcription	Left Ventricle	heart
5	chr1:79102200-79114800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:79103000-79111600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:79103000-79112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:79103400-79113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:79105000-79115400	Weak transcription	Psoas Muscle	Psoas
10	chr1:79105600-79115400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:79107200-79111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:79107400-79112800	Weak transcription	Right Atrium	heart
13	chr1:79107600-79115600	Weak transcription	Aorta	Aorta
14	chr1:79107800-79115400	Weak transcription	Ovary	ovary
15	chr1:79108200-79115000	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:79108400-79111200	Weak transcription	HUVEC	blood vessel
17	chr1:79108400-79112800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:79108600-79113400	ZNF genes & repeats	GM12878-XiMat	blood
19	chr1:79109200-79113200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:79109800-79111400	Enhancers	Primary T cells from cord blood	blood
21	chr1:79110000-79111200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:79110000-79111400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:79110000-79112400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:79110000-79113400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:79110200-79112400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:79110200-79112800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:79110400-79111200	Enhancers	Dnd41	blood
28	chr1:79110400-79111800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:79110400-79112600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:79110400-79113000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:79110600-79111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:79110600-79111800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:79110600-79111800	Enhancers	Fetal Thymus	thymus
34	chr1:79110600-79112600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:79110600-79112600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr1:79110600-79112600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:79110600-79113000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:79111000-79111200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:79111000-79112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:79111000-79112600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr1:79111000-79115000	Weak transcription	Osteobl	bone

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