Variant report

Variant	rs55634501
Chromosome Location	chr11:10479577-10479578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:10479458-10479763	K562	blood:	n/a	chr11:10479610-10479618 chr11:10479637-10479646
2	REST	chr11:10479362-10479812	GM12878	blood:	n/a	chr11:10479610-10479618 chr11:10479637-10479646
3	REST	chr11:10479347-10479801	HL-60	blood:	n/a	chr11:10479610-10479618 chr11:10479637-10479646
4	REST	chr11:10479573-10479725	GM12878	blood:	n/a	chr11:10479610-10479618 chr11:10479637-10479646

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10477667..10479595-chr11:10827642..10829380,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000110321	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10770118	0.93[EUR][1000 genomes]
rs10770120	0.90[EUR][1000 genomes]
rs28403593	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910139	0.84[ASN][1000 genomes]
rs55638917	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55931228	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57517348	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59344411	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59602345	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60628971	0.81[AMR][1000 genomes]
rs61891367	0.81[AMR][1000 genomes]
rs61891375	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891379	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891381	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61891382	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72856184	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72857462	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs922360	0.90[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:10476400-10481400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:10476600-10479800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:10476600-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:10476800-10482600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:10477000-10479600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr11:10477000-10481000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:10477000-10481400	Flanking Active TSS	Dnd41	blood
10	chr11:10477000-10481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:10477200-10479600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr11:10477200-10479600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr11:10477200-10479600	Flanking Active TSS	Fetal Thymus	thymus
14	chr11:10477200-10480600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:10477800-10489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:10478000-10480600	Weak transcription	Left Ventricle	heart
19	chr11:10478000-10487400	Weak transcription	HMEC	breast
20	chr11:10478200-10479600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:10478200-10480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:10478200-10480600	Weak transcription	Fetal Heart	heart
23	chr11:10478200-10481200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:10478200-10482600	Weak transcription	Stomach Mucosa	stomach
25	chr11:10478200-10482600	Weak transcription	HSMMtube	muscle
26	chr11:10478200-10483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:10478200-10485800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:10478400-10479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:10478400-10479600	Enhancers	Placenta	Placenta
30	chr11:10478400-10479800	Enhancers	Brain Angular Gyrus	brain
31	chr11:10478400-10479800	Active TSS	Duodenum Mucosa	Duodenum
32	chr11:10478400-10480000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:10478400-10480400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:10478400-10480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:10478400-10480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:10478400-10480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:10478400-10480400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:10478400-10480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:10478400-10480400	Weak transcription	Spleen	Spleen
40	chr11:10478400-10480400	Weak transcription	HUVEC	blood vessel
41	chr11:10478400-10480400	Weak transcription	NHDF-Ad	bronchial
42	chr11:10478400-10480600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:10478400-10480600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:10478400-10480600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:10478400-10480800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:10478400-10480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:10478400-10481000	Weak transcription	Small Intestine	intestine
48	chr11:10478400-10482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:10478400-10483800	Weak transcription	Gastric	stomach
50	chr11:10478400-10484600	Weak transcription	Liver	Liver

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