Variant report

Variant	rs4148894
Chromosome Location	chr11:45680210-45680211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45678783..45681662-chr11:45685006..45688205,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175264	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1026078	0.88[AFR][1000 genomes]
rs10769159	0.84[AFR][1000 genomes]
rs10769160	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078720	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838504	0.88[AFR][1000 genomes]
rs11038608	0.96[ASN][1000 genomes]
rs11603055	0.95[AFR][1000 genomes]
rs12420703	0.97[AFR][1000 genomes]
rs12804655	0.96[ASN][1000 genomes]
rs1348963	0.92[EUR][1000 genomes]
rs34264431	0.99[ASN][1000 genomes]
rs36106594	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4148893	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148897	0.96[ASN][1000 genomes]
rs4148899	0.94[AFR][1000 genomes]
rs4148901	0.91[AFR][1000 genomes]
rs45486999	0.99[ASN][1000 genomes]
rs45604433	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4756016	0.80[EUR][1000 genomes]
rs55681357	0.99[ASN][1000 genomes]
rs7121696	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs750398	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895729	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895733	0.94[AFR][1000 genomes]
rs895734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv554198	chr11:45674266-45684117	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45677600-45680400	Weak transcription	Fetal Brain Female	brain
2	chr11:45677800-45680600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:45678200-45684200	Enhancers	HUVEC	blood vessel
4	chr11:45678400-45685200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:45678600-45680400	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:45678600-45683600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:45679000-45680800	Enhancers	Fetal Muscle Leg	muscle
8	chr11:45679000-45684200	Enhancers	Dnd41	blood
9	chr11:45679200-45681800	Enhancers	Right Ventricle	heart
10	chr11:45679200-45681800	Enhancers	Spleen	Spleen
11	chr11:45679400-45680400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr11:45679400-45681800	Enhancers	Left Ventricle	heart
13	chr11:45679400-45682600	Bivalent Enhancer	Placenta	Placenta
14	chr11:45679400-45682800	Enhancers	Brain Substantia Nigra	brain
15	chr11:45679600-45680400	Enhancers	Brain Hippocampus Middle	brain
16	chr11:45679600-45680600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:45679600-45681400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:45679600-45681600	Enhancers	Right Atrium	heart
19	chr11:45679600-45683200	Enhancers	Brain Angular Gyrus	brain
20	chr11:45679600-45685400	Enhancers	Ovary	ovary
21	chr11:45679800-45680400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr11:45679800-45680400	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr11:45679800-45680400	Enhancers	Osteobl	bone
24	chr11:45679800-45680600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:45679800-45680600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:45679800-45680600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:45679800-45680800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:45679800-45680800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:45679800-45680800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:45679800-45680800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr11:45679800-45680800	Enhancers	HSMM	muscle
32	chr11:45679800-45680800	Enhancers	NH-A	brain
33	chr11:45679800-45681000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:45679800-45681000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:45679800-45681000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:45679800-45681000	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr11:45679800-45681000	Bivalent Enhancer	Fetal Lung	lung
38	chr11:45679800-45681200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:45679800-45684000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:45680000-45680400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:45680000-45680400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:45680000-45680600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:45680000-45680600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:45680000-45680600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr11:45680000-45680800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:45680000-45680800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:45680000-45680800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr11:45680000-45680800	Bivalent Enhancer	Fetal Thymus	thymus
49	chr11:45680000-45680800	Enhancers	Gastric	stomach
50	chr11:45680000-45681000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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