Variant report

Variant	rs56347111
Chromosome Location	chr1:221061116-221061117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221059069..221061749-chr1:221063321..221065597,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495156	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11118625	0.85[EUR][1000 genomes]
rs11118626	0.85[EUR][1000 genomes]
rs11584914	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11587049	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11590376	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12141189	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1335914	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1414518	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17597773	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1889795	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846670	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55703860	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61819203	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7546886	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221057000-221061800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221058200-221061200	Weak transcription	Psoas Muscle	Psoas
3	chr1:221060000-221063600	Weak transcription	NHLF	lung
4	chr1:221060200-221062000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:221060200-221062200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:221060400-221061400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:221060400-221061400	Enhancers	Liver	Liver
8	chr1:221060400-221061800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:221060600-221061200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:221060600-221061400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:221060600-221061400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:221060600-221061400	Bivalent Enhancer	Fetal Stomach	stomach
13	chr1:221060600-221061400	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr1:221060600-221061400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr1:221060600-221061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:221060800-221061200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:221060800-221061200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:221060800-221061200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:221060800-221061200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr1:221060800-221061200	Active TSS	Colon Smooth Muscle	Colon
21	chr1:221060800-221061200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:221060800-221061200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr1:221060800-221061200	Bivalent Enhancer	Left Ventricle	heart
24	chr1:221060800-221061200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr1:221060800-221061200	Enhancers	Spleen	Spleen
26	chr1:221060800-221061400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:221060800-221061400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr1:221060800-221061400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr1:221060800-221061400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
34	chr1:221060800-221061600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:221060800-221061600	Active TSS	Right Atrium	heart
36	chr1:221060800-221061800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:221060800-221062200	Bivalent Enhancer	HMEC	breast
38	chr1:221061000-221061200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:221061000-221061200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:221061000-221061200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr1:221061000-221061200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr1:221061000-221061200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
49	chr1:221061000-221061200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr1:221061000-221061200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain

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