Variant report

Variant	rs4724645
Chromosome Location	chr7:47835174-47835175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12666913	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12671226	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673415	1.00[ASW][hapmap];0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453288	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs17545292	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs17659711	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17659956	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs17710633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17710675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869322	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348460	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2348462	1.00[ASW][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes]
rs3734933	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62448545	0.84[ASN][1000 genomes]
rs62448548	0.84[ASN][1000 genomes]
rs62448549	0.84[ASN][1000 genomes]
rs62448550	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62448553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949512	0.88[CHD][hapmap];0.84[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
4	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
5	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47827600-47842000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:47827600-47844400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47827600-47845800	Weak transcription	Fetal Stomach	stomach
10	chr7:47828400-47839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:47832200-47838800	Weak transcription	HepG2	liver
12	chr7:47833000-47836000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:47834200-47836200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:47834400-47837200	Weak transcription	Spleen	Spleen
15	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:47834800-47835400	Enhancers	Adipose Nuclei	Adipose
17	chr7:47834800-47835400	Enhancers	NH-A	brain
18	chr7:47834800-47836200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:47834800-47836200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:47835000-47835200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:47835000-47835400	Flanking Active TSS	NHLF	lung
22	chr7:47835000-47835400	Flanking Active TSS	Osteobl	bone
23	chr7:47835000-47835600	Flanking Active TSS	HSMM	muscle
24	chr7:47835000-47836000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:47835000-47836200	Enhancers	A549	lung
26	chr7:47835000-47836200	Flanking Active TSS	HSMMtube	muscle
27	chr7:47835000-47836200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links