Variant report

Variant	rs6555791
Chromosome Location	chr5:167720465-167720466
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167719706..167722622-chr5:167894559..167896628,2	MCF-7	breast:
2	chr5:167718914..167721325-chr5:167913985..167916640,3	MCF-7	breast:
3	chr5:167718924..167721617-chr5:168004476..168006374,2	MCF-7	breast:
4	chr5:167720165..167722660-chr5:167828436..167831193,2	MCF-7	breast:
5	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction
ENSG00000113643	Chromatin interaction
ENSG00000120137	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12655262	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1422424	0.81[CHB][hapmap]
rs2253028	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2279698	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4976589	0.85[ASN][1000 genomes]
rs4976590	0.85[ASN][1000 genomes]
rs59111838	0.85[ASN][1000 genomes]
rs6882872	0.87[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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3366386	chr5:167717474-167720872	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3397146	chr5:167717924-167720922	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:167718400-167720600	Active TSS	Fetal Kidney	kidney
4	chr5:167718600-167720600	Active TSS	GM12878-XiMat	blood
5	chr5:167718600-167720800	Active TSS	Brain Anterior Caudate	brain
6	chr5:167719200-167722000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:167719200-167722800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:167719600-167722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:167719600-167722000	Weak transcription	Ovary	ovary
10	chr5:167719800-167720600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167719800-167720600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167719800-167720600	Flanking Active TSS	Pancreas	Pancrea
13	chr5:167719800-167720600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr5:167719800-167721000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:167720000-167720600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr5:167720000-167721000	Flanking Active TSS	Hela-S3	cervix
17	chr5:167720000-167721400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:167720000-167721400	Flanking Active TSS	Fetal Brain Female	brain
19	chr5:167720000-167722000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:167720000-167722000	Weak transcription	Osteobl	bone
21	chr5:167720200-167720600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:167720200-167720600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:167720200-167720800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:167720200-167720800	Transcr. at gene 5' and 3'	NHEK	skin
25	chr5:167720200-167720800	Weak transcription	NHLF	lung
26	chr5:167720200-167721000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:167720200-167721400	Enhancers	HepG2	liver
28	chr5:167720200-167721600	Transcr. at gene 5' and 3'	A549	lung
29	chr5:167720200-167722200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:167720200-167722400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:167720200-167722600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:167720400-167720600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:167720400-167720600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:167720400-167720600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr5:167720400-167720600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr5:167720400-167720600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:167720400-167720600	Active TSS	Liver	Liver
38	chr5:167720400-167720600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr5:167720400-167720600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr5:167720400-167720600	Bivalent/Poised TSS	Fetal Lung	lung
41	chr5:167720400-167720600	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr5:167720400-167720800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:167720400-167720800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:167720400-167720800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:167720400-167720800	Enhancers	Fetal Intestine Large	intestine
46	chr5:167720400-167720800	Enhancers	HMEC	breast
47	chr5:167720400-167721000	Enhancers	Fetal Intestine Small	intestine
48	chr5:167720400-167721000	Enhancers	Placenta	Placenta
49	chr5:167720400-167721200	Active TSS	Esophagus	oesophagus
50	chr5:167720400-167721800	Weak transcription	Brain Inferior Temporal Lobe	brain

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