Variant report

Variant	rs1463365
Chromosome Location	chr4:48913257-48913258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48908480..48910327-chr4:48912176..48914944,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10517231	0.91[ASN][1000 genomes]
rs11737706	0.88[ASN][1000 genomes]
rs12504699	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12512637	0.81[ASN][1000 genomes]
rs12641022	0.85[ASN][1000 genomes]
rs13146034	0.89[ASN][1000 genomes]
rs1455940	0.91[ASN][1000 genomes]
rs2085292	0.92[ASN][1000 genomes]
rs2289065	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290516	0.91[ASN][1000 genomes]
rs2572345	0.81[ASN][1000 genomes]
rs2712156	0.80[ASN][1000 genomes]
rs2712157	0.80[ASN][1000 genomes]
rs2712158	0.81[ASN][1000 genomes]
rs2712159	0.81[ASN][1000 genomes]
rs2883562	0.82[ASN][1000 genomes]
rs34730980	0.82[ASN][1000 genomes]
rs4694906	0.80[ASN][1000 genomes]
rs62310934	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6447670	0.87[ASN][1000 genomes]
rs724598	0.92[ASN][1000 genomes]
rs7439193	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7685360	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription 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
11	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48909200-48914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:48909200-48916200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:48909400-48914600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:48909400-48917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:48910000-48913400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:48910600-48914600	Weak transcription	Esophagus	oesophagus
7	chr4:48911600-48915400	Weak transcription	NHLF	lung
8	chr4:48911800-48914600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:48911800-48914600	Weak transcription	NH-A	brain
10	chr4:48911800-48914800	Weak transcription	HSMM	muscle
11	chr4:48911800-48915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:48911800-48916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:48912200-48914600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:48912200-48914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:48912200-48914600	Weak transcription	HMEC	breast
16	chr4:48912200-48914600	Weak transcription	NHDF-Ad	bronchial
17	chr4:48912200-48914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:48912200-48914800	Weak transcription	Osteobl	bone
19	chr4:48912200-48915000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:48912200-48915200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:48912200-48915400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48912800-48914600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:48913000-48914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:48913000-48914400	Weak transcription	NHEK	skin
25	chr4:48913000-48914600	Weak transcription	HUVEC	blood vessel
26	chr4:48913000-48916800	Weak transcription	Stomach Mucosa	stomach
27	chr4:48913200-48913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links