Variant report

Variant	rs7787044
Chromosome Location	chr7:120824247-120824248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120814118..120818051-chr7:120821660..120824436,5	K562	blood:
2	chr7:120821041..120822740-chr7:120822872..120826535,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10085590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234955	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10235232	0.90[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258619	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10261671	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10275439	0.90[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10280039	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953928	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953931	0.82[AMR][1000 genomes]
rs1112810	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11764551	0.82[AMR][1000 genomes]
rs12673968	0.82[CHB][hapmap]
rs12706314	1.00[JPT][hapmap]
rs12706318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13223036	0.82[CHB][hapmap]
rs13232048	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13245690	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1357756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1404268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1524501	0.80[EUR][1000 genomes]
rs1524502	0.80[EUR][1000 genomes]
rs1524503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs1534015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes]
rs1554634	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17356657	1.00[JPT][hapmap]
rs1861001	0.82[CHB][hapmap]
rs1917113	0.82[CHB][hapmap]
rs1917118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2110281	0.82[CHB][hapmap]
rs2402562	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28588484	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968345	0.82[CHB][hapmap]
rs2968349	0.82[CHB][hapmap]
rs34088248	0.84[AMR][1000 genomes]
rs34249834	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34275932	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34320754	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34770628	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35758028	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35789132	0.89[ASN][1000 genomes]
rs4730999	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55694614	0.84[AMR][1000 genomes]
rs62469350	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6466767	0.82[CHB][hapmap]
rs6466769	0.82[CHB][hapmap]
rs66871562	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67991850	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6947453	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6947494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs6950680	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6951990	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6952113	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6954210	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs6954757	0.82[CHB][hapmap]
rs6963115	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6971407	0.81[AMR][1000 genomes]
rs7786203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes]
rs7797976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7798060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799790	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7801723	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7805735	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs798933	0.82[CHB][hapmap]
rs798943	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs868053	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs872007	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs872008	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884373	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9640799	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641660	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9770763	0.82[AMR][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	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
2	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:120819200-120861000	Strong transcription	K562	blood
6	chr7:120819400-120831600	Weak transcription	Psoas Muscle	Psoas
7	chr7:120821000-120825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:120821200-120826000	Enhancers	Primary B cells from cord blood	blood
9	chr7:120822000-120827000	Weak transcription	GM12878-XiMat	blood
10	chr7:120823000-120826800	Weak transcription	Ovary	ovary
11	chr7:120823000-120827000	Weak transcription	HSMM	muscle
12	chr7:120823000-120827400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:120823000-120832200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:120823200-120827400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:120823400-120827200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:120823400-120835800	Weak transcription	Aorta	Aorta
17	chr7:120823600-120827000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:120823600-120874800	Weak transcription	NHLF	lung

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