Variant report

Variant	rs28441302
Chromosome Location	chr2:11470642-11470643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11468962..11471644-chr2:11473176..11474699,2	MCF-7	breast:
2	chr2:11467535..11471011-chr2:11482918..11485202,3	MCF-7	breast:
3	chr2:11470381..11472827-chr2:11486435..11488434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

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

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

rs_ID	r²[population]
rs10183373	0.84[AFR][1000 genomes]
rs10201229	0.84[AFR][1000 genomes]
rs10205022	0.84[AFR][1000 genomes]
rs10495581	0.83[AFR][1000 genomes]
rs12329273	0.91[AFR][1000 genomes]
rs12329341	0.91[AFR][1000 genomes]
rs13387757	0.92[AFR][1000 genomes]
rs13388427	0.84[AFR][1000 genomes]
rs13416047	1.00[AFR][1000 genomes]
rs1375853	1.00[AFR][1000 genomes]
rs4267491	1.00[AFR][1000 genomes]
rs55931955	0.83[AFR][1000 genomes]
rs6705981	0.83[AFR][1000 genomes]
rs6748868	0.83[AFR][1000 genomes]
rs7583049	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3423850	chr2:11469926-11472474	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3393674	chr2:11470501-11471699	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:11467600-11471400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11467600-11472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:11467800-11470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:11467800-11470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11467800-11471400	Weak transcription	Right Ventricle	heart
13	chr2:11467800-11471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
17	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
18	chr2:11469400-11470800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:11469400-11470800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:11469400-11470800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:11469400-11471000	Enhancers	HSMM	muscle
22	chr2:11469800-11470800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:11469800-11470800	Enhancers	Hela-S3	cervix
24	chr2:11470000-11470800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:11470200-11470800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:11470200-11471600	Weak transcription	HepG2	liver
27	chr2:11470200-11473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11470400-11470800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:11470400-11470800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:11470400-11470800	Active TSS	Right Atrium	heart
31	chr2:11470400-11470800	Enhancers	K562	blood
32	chr2:11470400-11470800	Active TSS	NHDF-Ad	bronchial
33	chr2:11470400-11470800	Active TSS	NHLF	lung
34	chr2:11470400-11471000	Active TSS	Ovary	ovary
35	chr2:11470400-11472200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:11470400-11472400	Weak transcription	A549	lung
37	chr2:11470400-11472600	Weak transcription	Fetal Heart	heart
38	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:11470600-11470800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:11470600-11470800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:11470600-11471400	Weak transcription	Liver	Liver
43	chr2:11470600-11475200	Weak transcription	Osteobl	bone

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