Variant report

Variant	rs2209154
Chromosome Location	chr6:133133102-133133103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
2	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000028839	Chromatin interaction
ENSG00000146409	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1124450	0.82[EUR][1000 genomes]
rs12206120	0.80[EUR][1000 genomes]
rs1408063	0.82[EUR][1000 genomes]
rs3756968	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275081	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897616	0.80[EUR][1000 genomes]
rs4897617	0.80[EUR][1000 genomes]
rs4897618	0.81[EUR][1000 genomes]
rs6569853	0.82[EUR][1000 genomes]
rs6569854	0.81[EUR][1000 genomes]
rs6917833	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6920271	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6925225	0.82[EUR][1000 genomes]
rs7357079	0.82[EUR][1000 genomes]
rs7452703	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs755895	0.80[EUR][1000 genomes]
rs7743635	0.82[EUR][1000 genomes]
rs7744235	0.81[EUR][1000 genomes]
rs7750176	0.80[EUR][1000 genomes]
rs7764252	0.81[EUR][1000 genomes]
rs9375924	0.82[EUR][1000 genomes]
rs9375925	0.82[EUR][1000 genomes]
rs9399043	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402457	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9402460	0.82[EUR][1000 genomes]
rs9402462	0.82[EUR][1000 genomes]
rs9493450	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133120800-133134000	Weak transcription	Pancreas	Pancrea
2	chr6:133121200-133133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:133130000-133133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:133131200-133133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:133131600-133133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:133131800-133133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:133132200-133133600	Enhancers	Adipose Nuclei	Adipose
8	chr6:133132400-133133200	Enhancers	Liver	Liver
9	chr6:133132400-133133400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:133132600-133133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:133132600-133133600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:133132600-133133600	Enhancers	HepG2	liver
13	chr6:133132800-133133400	Enhancers	Stomach Mucosa	stomach
14	chr6:133132800-133133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:133132800-133133600	Weak transcription	Fetal Lung	lung
16	chr6:133132800-133133600	Weak transcription	Small Intestine	intestine
17	chr6:133133000-133133200	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:133133000-133133400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:133133000-133133400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:133133000-133133600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:133133000-133133600	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:133133000-133133600	Enhancers	K562	blood
23	chr6:133133000-133133600	Enhancers	NHLF	lung

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