Variant report

Variant	rs58040982
Chromosome Location	chr2:234208045-234208046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234196980..234199300-chr2:234206108..234208506,2	MCF-7	breast:
2	chr2:234198572..234200432-chr2:234205905..234208256,2	MCF-7	breast:
3	chr2:234206531..234209535-chr2:234260932..234264181,3	MCF-7	breast:
4	chr2:234201699..234203441-chr2:234207264..234209148,2	K562	blood:
5	chr2:234205572..234208233-chr2:234208734..234211089,2	K562	blood:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000243637	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10186415	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11886745	0.88[AMR][1000 genomes]
rs12472475	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12474375	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477844	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12617453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623795	0.90[ASN][1000 genomes]
rs13432541	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1441090	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1978921	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4663147	0.83[AMR][1000 genomes]
rs4663340	0.81[ASN][1000 genomes]
rs4663346	0.83[ASN][1000 genomes]
rs4663402	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4663420	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4663421	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4663490	0.84[ASN][1000 genomes]
rs57215884	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73110037	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73110098	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7587485	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:234199200-234210200	Weak transcription	Stomach Mucosa	stomach
3	chr2:234203200-234209000	Weak transcription	Fetal Brain Male	brain
4	chr2:234203400-234209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
6	chr2:234204000-234211000	Weak transcription	Fetal Lung	lung
7	chr2:234204800-234208800	Weak transcription	Placenta	Placenta
8	chr2:234204800-234209400	Weak transcription	NHLF	lung
9	chr2:234204800-234210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:234205000-234209000	Weak transcription	GM12878-XiMat	blood
11	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
12	chr2:234205200-234208400	Weak transcription	Gastric	stomach
13	chr2:234205200-234208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:234205200-234209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:234205200-234209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:234205200-234210400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:234205200-234211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:234205200-234211800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:234205400-234208200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:234205400-234208200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:234205400-234209200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:234205400-234209400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:234205400-234209600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:234205400-234211800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:234205400-234213400	Weak transcription	Lung	lung
26	chr2:234205400-234219800	Weak transcription	Spleen	Spleen
27	chr2:234205600-234208400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:234205600-234209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:234206000-234208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:234206000-234214800	Weak transcription	Pancreas	Pancrea
31	chr2:234206000-234215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:234206000-234218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:234206400-234209000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:234206400-234209600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:234206400-234213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:234206400-234216200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:234206400-234218800	Weak transcription	Right Atrium	heart
38	chr2:234206600-234208200	Weak transcription	Primary T cells from cord blood	blood
39	chr2:234206600-234209200	Weak transcription	HepG2	liver
40	chr2:234206600-234209400	Weak transcription	Fetal Stomach	stomach
41	chr2:234206800-234209400	Weak transcription	HSMMtube	muscle
42	chr2:234206800-234210800	Weak transcription	A549	lung
43	chr2:234207800-234210400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:234207800-234216000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links