Variant report

Variant	rs1861048
Chromosome Location	chr4:15481976-15481977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15479910..15482087-chr4:15683434..15685124,3	MCF-7	breast:
2	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
3	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
4	chr4:15480883..15483744-chr4:15651050..15653259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1058412	0.81[CEU][hapmap]
rs11728800	0.85[CEU][hapmap]
rs13131700	0.85[CEU][hapmap]
rs2080176	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2080177	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3797006	0.80[JPT][hapmap]
rs4063953	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4140933	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4140934	0.92[CEU][hapmap];0.81[TSI][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4698112	1.00[CEU][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4698386	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698395	0.81[CEU][hapmap]
rs6810461	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7675761	0.81[CEU][hapmap]
rs9993748	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9998686	1.00[CEU][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9998697	0.83[AMR][1000 genomes];0.84[EUR][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15480600-15482000	Active TSS	HSMM	muscle
2	chr4:15480800-15482000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:15480800-15482000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:15480800-15482000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:15480800-15482000	Flanking Active TSS	NH-A	brain
6	chr4:15480800-15482200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:15481000-15482000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:15481000-15482000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:15481000-15482000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:15481000-15482000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:15481000-15482000	Flanking Active TSS	HUVEC	blood vessel
12	chr4:15481200-15482000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:15481200-15482000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:15481200-15482000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:15481200-15482000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:15481200-15482000	Flanking Active TSS	NHEK	skin
17	chr4:15481200-15482000	Flanking Active TSS	Osteobl	bone
18	chr4:15481200-15482200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:15481200-15485200	Weak transcription	Right Ventricle	heart
20	chr4:15481400-15482000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:15481400-15482000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:15481400-15482000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr4:15481400-15482200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:15481400-15482400	Weak transcription	Left Ventricle	heart
25	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
26	chr4:15481600-15482000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:15481600-15482000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:15481600-15482000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:15481600-15482000	Enhancers	Brain Substantia Nigra	brain
30	chr4:15481600-15482000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:15481600-15482000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:15481600-15482000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:15481600-15482000	Active TSS	NHLF	lung
34	chr4:15481600-15482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:15481600-15482200	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:15481600-15482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:15481600-15482400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:15481600-15482400	Weak transcription	Lung	lung
39	chr4:15481600-15482400	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:15481600-15482400	Enhancers	NHDF-Ad	bronchial
41	chr4:15481600-15482600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:15481600-15482600	Enhancers	Adipose Nuclei	Adipose
43	chr4:15481600-15482600	Enhancers	Fetal Heart	heart
44	chr4:15481600-15484000	Weak transcription	Aorta	Aorta
45	chr4:15481600-15484200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:15481600-15484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:15481600-15484400	Weak transcription	Placenta	Placenta
48	chr4:15481600-15484400	Weak transcription	K562	blood
49	chr4:15481600-15484600	Weak transcription	Right Atrium	heart
50	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links