Variant report

Variant	rs4814270
Chromosome Location	chr20:13847165-13847166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13846479..13848904-chr20:13850428..13852798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101251	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1076793	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814268	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6110065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6110073	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7271734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs761812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13843600-13850800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:13843800-13848600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:13843800-13850000	Enhancers	NHDF-Ad	bronchial
4	chr20:13844200-13851800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:13844800-13847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:13844800-13847400	Enhancers	Stomach Smooth Muscle	stomach
7	chr20:13845200-13847200	Enhancers	Rectal Smooth Muscle	rectum
8	chr20:13845400-13847200	Enhancers	HSMM	muscle
9	chr20:13845600-13847200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr20:13845600-13847200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr20:13845600-13847200	Enhancers	Fetal Brain Male	brain
12	chr20:13845600-13847200	Enhancers	Fetal Lung	lung
13	chr20:13845600-13847200	Enhancers	NHLF	lung
14	chr20:13845600-13847400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr20:13845600-13848000	Enhancers	Fetal Stomach	stomach
16	chr20:13845600-13849800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:13845600-13850600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:13845800-13847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr20:13845800-13847200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:13845800-13847400	Enhancers	Brain Anterior Caudate	brain
21	chr20:13845800-13847400	Enhancers	Colon Smooth Muscle	Colon
22	chr20:13845800-13847800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:13845800-13848600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr20:13846000-13847200	Enhancers	Aorta	Aorta
25	chr20:13846000-13847200	Enhancers	Brain Cingulate Gyrus	brain
26	chr20:13846000-13847200	Enhancers	Brain Hippocampus Middle	brain
27	chr20:13846000-13847200	Enhancers	Brain Substantia Nigra	brain
28	chr20:13846000-13847200	Enhancers	Ovary	ovary
29	chr20:13846000-13847400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr20:13846000-13847400	Enhancers	Adipose Nuclei	Adipose
31	chr20:13846000-13847400	Enhancers	HSMMtube	muscle
32	chr20:13846200-13847200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:13846200-13847200	Enhancers	Fetal Brain Female	brain
34	chr20:13846200-13847200	Enhancers	Psoas Muscle	Psoas
35	chr20:13846200-13847400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr20:13846400-13847200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr20:13846400-13847200	Enhancers	Liver	Liver
38	chr20:13846400-13847200	Enhancers	Fetal Heart	heart
39	chr20:13846600-13847200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr20:13846600-13847200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:13846600-13854600	Weak transcription	Right Atrium	heart
42	chr20:13846800-13847200	Enhancers	Brain Angular Gyrus	brain
43	chr20:13846800-13847200	Enhancers	NH-A	brain
44	chr20:13846800-13847400	Enhancers	Brain Germinal Matrix	brain
45	chr20:13847000-13847200	Enhancers	Primary B cells from cord blood	blood
46	chr20:13847000-13847200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr20:13847000-13847200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr20:13847000-13847400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr20:13847000-13853400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr20:13847000-13854200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links