Variant report

Variant	rs2957680
Chromosome Location	chr11:10349690-10349691
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	SPI1	chr11:10349598-10350096	HL-60	blood:	n/a	chr11:10349939-10349952 chr11:10349940-10349953 chr11:10349942-10349951

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10328338..10330895-chr11:10349189..10351811,2	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13306112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13306113	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1470686	0.92[ASN][1000 genomes]
rs2403307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2403309	0.84[ASN][1000 genomes]
rs2957686	0.92[ASN][1000 genomes]
rs35389379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58795846	1.00[AMR][1000 genomes]
rs59871004	1.00[AMR][1000 genomes]
rs61891775	0.92[ASN][1000 genomes]
rs7941557	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
3	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
4	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:10343800-10350200	Enhancers	NHLF	lung
6	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:10344000-10353200	Enhancers	NH-A	brain
8	chr11:10344000-10353400	Enhancers	Osteobl	bone
9	chr11:10344400-10351600	Enhancers	Ovary	ovary
10	chr11:10344600-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:10344600-10350000	Weak transcription	HMEC	breast
12	chr11:10344600-10350200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
14	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
15	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:10344800-10349800	Weak transcription	Fetal Heart	heart
17	chr11:10344800-10350000	Weak transcription	NHEK	skin
18	chr11:10345200-10350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:10345800-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:10346000-10349800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:10346000-10350000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:10346000-10350200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:10346200-10350600	Enhancers	Small Intestine	intestine
25	chr11:10347200-10351600	Enhancers	Fetal Intestine Large	intestine
26	chr11:10347200-10353600	Enhancers	NHDF-Ad	bronchial
27	chr11:10347400-10349800	Enhancers	Pancreas	Pancrea
28	chr11:10347400-10349800	Enhancers	Right Ventricle	heart
29	chr11:10347600-10350000	Weak transcription	Fetal Lung	lung
30	chr11:10347600-10350200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:10347600-10350600	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:10347600-10351600	Enhancers	Fetal Intestine Small	intestine
33	chr11:10347800-10349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:10347800-10350000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:10347800-10351000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:10347800-10351000	Enhancers	Placenta	Placenta
37	chr11:10348000-10349800	Weak transcription	HSMMtube	muscle
38	chr11:10348000-10350200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:10348000-10350600	Enhancers	Liver	Liver
40	chr11:10348000-10350800	Enhancers	HepG2	liver
41	chr11:10348000-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:10348200-10349800	Weak transcription	HSMM	muscle
43	chr11:10348200-10353200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:10348200-10353400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:10348200-10370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:10348400-10349800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:10348400-10349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:10348400-10349800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:10348400-10350000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:10348400-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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