Variant report

Variant	rs73177275
Chromosome Location	chr2:11518917-11518918
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11511258..11513746-chr2:11518723..11520473,2	MCF-7	breast:
2	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:
3	chr2:11518112..11520070-chr2:11527868..11530807,2	MCF-7	breast:
4	chr2:11516205..11518065-chr2:11518508..11520842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231403	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4497845	1.00[EUR][1000 genomes]
rs6714757	1.00[EUR][1000 genomes]
rs6744190	1.00[EUR][1000 genomes]
rs73177264	1.00[AMR][1000 genomes]
rs73177266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7576515	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7585679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594466	1.00[EUR][1000 genomes]
rs7596720	1.00[EUR][1000 genomes]
rs7598990	1.00[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11514800-11519200	Enhancers	Fetal Intestine Large	intestine
2	chr2:11515200-11519000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:11515400-11520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:11515600-11519200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:11515600-11519400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:11515600-11520000	Weak transcription	Liver	Liver
8	chr2:11515800-11519200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:11515800-11519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:11515800-11519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:11515800-11519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:11515800-11519600	Weak transcription	NHEK	skin
13	chr2:11515800-11520000	Weak transcription	Fetal Heart	heart
14	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
15	chr2:11516200-11519000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:11516200-11519400	Weak transcription	HMEC	breast
17	chr2:11516200-11522400	Weak transcription	Hela-S3	cervix
18	chr2:11516200-11528400	Weak transcription	Pancreas	Pancrea
19	chr2:11516800-11519400	Enhancers	HepG2	liver
20	chr2:11517200-11519000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:11517200-11519400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11517200-11519400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:11517200-11519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:11517600-11519200	Enhancers	Psoas Muscle	Psoas
25	chr2:11517600-11519800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:11517600-11520000	Enhancers	Fetal Stomach	stomach
27	chr2:11517600-11520000	Enhancers	Lung	lung
28	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:11517800-11520200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:11518000-11519000	Enhancers	Primary B cells from cord blood	blood
31	chr2:11518000-11520200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:11518000-11520200	Enhancers	Placenta	Placenta
33	chr2:11518200-11519000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:11518200-11519200	Enhancers	Brain Anterior Caudate	brain
35	chr2:11518200-11519200	Flanking Active TSS	GM12878-XiMat	blood
36	chr2:11518200-11519400	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:11518200-11519800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:11518200-11520000	Enhancers	Right Atrium	heart
39	chr2:11518200-11520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:11518200-11520200	Enhancers	NHDF-Ad	bronchial
41	chr2:11518400-11519200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr2:11518400-11519200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr2:11518400-11520200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:11518600-11519200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:11518600-11519200	Enhancers	Colonic Mucosa	Colon
46	chr2:11518600-11519600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:11518600-11519600	Enhancers	Small Intestine	intestine
48	chr2:11518600-11519800	Enhancers	Fetal Thymus	thymus
49	chr2:11518600-11520000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:11518600-11520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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