Variant report

Variant	rs2240058
Chromosome Location	chr6:30310500-30310501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30301782..30303711-chr6:30308127..30310894,2	MCF-7	breast:
2	chr6:30261501..30265546-chr6:30310228..30314438,4	K562	blood:
3	chr6:30180733..30183619-chr6:30310467..30312981,3	MCF-7	breast:
4	chr6:30293058..30297784-chr6:30308514..30315279,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270604	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000248167	Chromatin interaction
ENSG00000234127	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12174823	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1579218	0.91[EUR][1000 genomes]
rs1579219	0.91[EUR][1000 genomes]
rs2187980	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2285798	0.91[EUR][1000 genomes]
rs2394779	0.91[EUR][1000 genomes]
rs2894145	0.91[EUR][1000 genomes]
rs3778626	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5030611	0.84[EUR][1000 genomes]
rs56183729	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295844	0.91[EUR][1000 genomes]
rs9357095	0.91[EUR][1000 genomes]
rs9366755	0.91[EUR][1000 genomes]
rs9368628	0.90[EUR][1000 genomes]
rs9368632	0.91[EUR][1000 genomes]
rs9368633	0.91[EUR][1000 genomes]
rs9380173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9391679	0.91[EUR][1000 genomes]
rs9391762	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9391806	0.91[EUR][1000 genomes]
rs9391807	0.91[EUR][1000 genomes]
rs9393999	0.91[EUR][1000 genomes]
rs9394000	0.91[EUR][1000 genomes]
rs9394002	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9405046	0.84[ASN][1000 genomes]
rs974962	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240058	TRIM26	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30295600-30312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30295600-30312600	Weak transcription	Right Atrium	heart
3	chr6:30295600-30313000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:30295800-30311000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:30295800-30312400	Weak transcription	Fetal Heart	heart
6	chr6:30295800-30312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:30296600-30310600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr6:30296800-30310600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:30296800-30310800	Strong transcription	Fetal Brain Female	brain
10	chr6:30296800-30311200	Strong transcription	Placenta	Placenta
11	chr6:30296800-30311400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:30296800-30311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:30297000-30310600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:30297000-30311000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:30297200-30310600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:30297200-30310600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:30297200-30310800	Strong transcription	Liver	Liver
18	chr6:30297200-30310800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:30297200-30310800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr6:30297200-30311000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30297200-30311000	Strong transcription	Adipose Nuclei	Adipose
22	chr6:30298200-30310800	Strong transcription	Primary B cells from cord blood	blood
23	chr6:30298600-30312600	Weak transcription	Fetal Brain Male	brain
24	chr6:30298800-30311600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:30301200-30310600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:30301200-30310800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:30301200-30311200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:30301400-30310600	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:30301400-30311200	Strong transcription	Primary T cells from cord blood	blood
30	chr6:30301600-30310600	Strong transcription	Fetal Intestine Large	intestine
31	chr6:30301600-30311000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr6:30301600-30311200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr6:30301800-30310800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:30301800-30311000	Strong transcription	Fetal Muscle Leg	muscle
35	chr6:30301800-30311200	Strong transcription	Lung	lung
36	chr6:30304000-30312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:30304400-30312400	Weak transcription	A549	lung
38	chr6:30306000-30312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:30306400-30312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:30306600-30312600	Weak transcription	HUVEC	blood vessel
41	chr6:30307000-30310800	Strong transcription	Fetal Stomach	stomach
42	chr6:30307200-30310800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30307400-30310800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:30307400-30310800	Strong transcription	Thymus	Thymus
45	chr6:30307400-30311000	Strong transcription	Brain Germinal Matrix	brain
46	chr6:30308200-30312400	Weak transcription	GM12878-XiMat	blood
47	chr6:30308600-30312400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:30308800-30310600	Strong transcription	Right Ventricle	heart
49	chr6:30309200-30311800	Genic enhancers	K562	blood
50	chr6:30309200-30312600	Weak transcription	HSMM	muscle

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