Variant report

Variant	rs11895547
Chromosome Location	chr2:11476734-11476735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:
2	chr2:11465949..11467499-chr2:11475511..11477428,2	MCF-7	breast:
3	chr2:11472516..11476992-chr2:11482916..11485822,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11884214	1.00[ASN][1000 genomes]
rs11884623	1.00[ASN][1000 genomes]
rs11901643	1.00[ASN][1000 genomes]
rs13394039	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16857265	1.00[ASN][1000 genomes]
rs2122385	1.00[ASN][1000 genomes]
rs4611620	1.00[ASN][1000 genomes]
rs56109303	1.00[ASN][1000 genomes]
rs61632819	1.00[ASN][1000 genomes]
rs6705799	1.00[ASN][1000 genomes]
rs6754743	1.00[ASN][1000 genomes]
rs7424263	1.00[ASN][1000 genomes]
rs7593683	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603029	1.00[ASN][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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
6	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:11470800-11481200	Weak transcription	Right Atrium	heart
9	chr2:11470800-11481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:11471000-11481200	Weak transcription	HSMM	muscle
11	chr2:11471200-11478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:11471200-11480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:11471600-11477000	Enhancers	HepG2	liver
14	chr2:11472200-11482800	Weak transcription	Gastric	stomach
15	chr2:11473600-11479800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:11473800-11479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:11474000-11477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:11474000-11479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:11474200-11480000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:11475000-11481200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:11475400-11479800	Weak transcription	Aorta	Aorta
22	chr2:11475400-11481000	Weak transcription	Ovary	ovary
23	chr2:11475600-11478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:11475800-11479200	Weak transcription	NHLF	lung
25	chr2:11475800-11479800	Weak transcription	Liver	Liver
26	chr2:11475800-11479800	Weak transcription	Stomach Mucosa	stomach
27	chr2:11475800-11481200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:11476000-11479800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:11476000-11479800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:11476000-11479800	Weak transcription	Osteobl	bone
31	chr2:11476000-11480000	Weak transcription	NHDF-Ad	bronchial
32	chr2:11476000-11480200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:11476200-11476800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:11476200-11479200	Weak transcription	Hela-S3	cervix
35	chr2:11476200-11482200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:11476400-11476800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:11476400-11476800	Enhancers	Colon Smooth Muscle	Colon
38	chr2:11476400-11476800	Enhancers	Left Ventricle	heart
39	chr2:11476400-11476800	Enhancers	Psoas Muscle	Psoas
40	chr2:11476400-11476800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:11476400-11477000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:11476400-11477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:11476600-11476800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:11476600-11476800	Enhancers	Fetal Intestine Large	intestine
45	chr2:11476600-11476800	Enhancers	Fetal Intestine Small	intestine
46	chr2:11476600-11477000	Strong transcription	A549	lung
47	chr2:11476600-11478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:11476600-11482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:11476600-11482800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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