Variant report

Variant	rs57427044
Chromosome Location	chr7:3322437-3322438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11975560	0.82[EUR][1000 genomes]
rs11979270	0.84[EUR][1000 genomes]
rs11981998	0.80[EUR][1000 genomes]
rs11982674	0.80[EUR][1000 genomes]
rs1522503	0.80[EUR][1000 genomes]
rs17133260	0.82[EUR][1000 genomes]
rs1961404	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2334059	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59076306	0.80[EUR][1000 genomes]
rs60418263	0.80[EUR][1000 genomes]
rs61039995	0.82[EUR][1000 genomes]
rs67461903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68092516	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68115111	0.82[EUR][1000 genomes]
rs6943523	0.82[EUR][1000 genomes]
rs6946840	0.81[EUR][1000 genomes]
rs6955021	0.81[EUR][1000 genomes]
rs6962043	0.84[EUR][1000 genomes]
rs6969455	0.80[EUR][1000 genomes]
rs6977532	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043625	1.00[ASN][1000 genomes]
rs73043641	1.00[ASN][1000 genomes]
rs73043663	1.00[ASN][1000 genomes]
rs73043670	1.00[ASN][1000 genomes]
rs73043673	1.00[ASN][1000 genomes]
rs73043674	1.00[ASN][1000 genomes]
rs73045613	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045637	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045677	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048676	0.80[EUR][1000 genomes]
rs73048677	0.80[EUR][1000 genomes]
rs73048700	0.84[EUR][1000 genomes]
rs73049436	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049438	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050503	0.82[EUR][1000 genomes]
rs7783541	0.80[EUR][1000 genomes]
rs9771086	0.80[EUR][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	nsv464264	chr7:3194156-3349625	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv605880	chr7:3194156-3349625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv887322	chr7:3264728-3332630	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv887323	chr7:3271998-3332630	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv887324	chr7:3308195-3400105	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3319200-3323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:3320400-3323200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:3320800-3323200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:3321200-3324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:3321400-3323200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:3321600-3322600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:3321600-3325200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:3321800-3323400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:3321800-3323600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:3322000-3322600	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:3322000-3323200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:3322000-3323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:3322000-3323400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:3322000-3323600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:3322200-3323200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:3322200-3323400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:3322200-3323400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:3322400-3322800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:3322400-3322800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:3322400-3322800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:3322400-3323400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:3322400-3325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links