Variant report

Variant	rs560857
Chromosome Location	chr11:72501490-72501491
allele	A/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	MAZ	chr11:72500356-72501522	IMR90	lung:	n/a	chr11:72500504-72500514 chr11:72500704-72500711

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
2	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1025411	1.00[AFR][1000 genomes]
rs10736789	1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[AFR][1000 genomes]
rs10751221	1.00[AFR][1000 genomes]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[AFR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[AFR][1000 genomes]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[AFR][1000 genomes]
rs4329714	1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[AFR][1000 genomes]
rs4643105	1.00[AFR][1000 genomes]
rs479093	1.00[AFR][1000 genomes]
rs4944015	1.00[AFR][1000 genomes]
rs4944017	1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944812	1.00[AFR][1000 genomes]
rs4944817	1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs537980	1.00[AFR][1000 genomes]
rs560258	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs640283	1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[AFR][1000 genomes]
rs7101936	1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[AFR][1000 genomes]
rs7129851	1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7937866	1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[AFR][1000 genomes]
rs7950432	1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[AFR][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
2	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
11	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:72498400-72501600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:72498400-72502000	Enhancers	Fetal Heart	heart
14	chr11:72498400-72502200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
16	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:72499200-72502400	Enhancers	Liver	Liver
22	chr11:72499400-72501800	Enhancers	Right Ventricle	heart
23	chr11:72499400-72503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:72499400-72503600	Weak transcription	Fetal Thymus	thymus
25	chr11:72499400-72504400	Weak transcription	Pancreas	Pancrea
26	chr11:72499600-72502000	Weak transcription	GM12878-XiMat	blood
27	chr11:72499600-72502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:72499600-72503400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:72499600-72503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:72499600-72503400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:72499600-72503400	Weak transcription	Spleen	Spleen
32	chr11:72499600-72503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:72499600-72503800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:72499800-72503600	Weak transcription	Hela-S3	cervix
35	chr11:72500200-72501600	Enhancers	Lung	lung
36	chr11:72500200-72501800	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:72500200-72501800	Enhancers	Left Ventricle	heart
38	chr11:72500200-72501800	Enhancers	NHDF-Ad	bronchial
39	chr11:72500200-72502000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:72500200-72502000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:72500200-72502000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:72500200-72502000	Enhancers	HSMMtube	muscle
43	chr11:72500200-72502200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:72500200-72502200	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:72500200-72502400	Enhancers	Fetal Brain Female	brain
46	chr11:72500200-72503200	Weak transcription	Primary B cells from cord blood	blood
47	chr11:72500400-72501600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:72500400-72501600	Enhancers	NHEK	skin
49	chr11:72500400-72501800	Enhancers	Brain Anterior Caudate	brain
50	chr11:72500400-72501800	Enhancers	NH-A	brain

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