Variant report

Variant	rs56672504
Chromosome Location	chr7:83865783-83865784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1006794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240629	0.84[AFR][1000 genomes]
rs10254748	0.84[AFR][1000 genomes]
rs11974097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11976376	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977024	0.84[AFR][1000 genomes]
rs11982998	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158745	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158769	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158773	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158800	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158801	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158808	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158823	0.84[AFR][1000 genomes]
rs2158321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28386953	0.84[AFR][1000 genomes]
rs55898411	0.84[AFR][1000 genomes]
rs59179675	0.84[AFR][1000 genomes]
rs61237876	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709790	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709791	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709793	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709797	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709802	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711503	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711506	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711509	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711511	0.84[AFR][1000 genomes]
rs73711513	0.84[AFR][1000 genomes]
rs73711515	0.84[AFR][1000 genomes]
rs73711516	0.84[AFR][1000 genomes]
rs73711517	0.84[AFR][1000 genomes]
rs73711519	0.84[AFR][1000 genomes]
rs73712709	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:83857600-83874000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:83861200-83867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:83865000-83865800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83865000-83867400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:83865000-83867400	Enhancers	HMEC	breast
6	chr7:83865000-83867400	Enhancers	Osteobl	bone
7	chr7:83865000-83867800	Enhancers	Hela-S3	cervix
8	chr7:83865000-83867800	Enhancers	NHEK	skin
9	chr7:83865000-83868400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:83865200-83866400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:83865200-83866800	Enhancers	NHLF	lung
12	chr7:83865200-83867400	Enhancers	A549	lung
13	chr7:83865200-83867400	Enhancers	NH-A	brain
14	chr7:83865200-83867800	Enhancers	NHDF-Ad	bronchial
15	chr7:83865200-83868000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:83865200-83868200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:83865400-83866200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:83865400-83866800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:83865400-83867600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:83865600-83865800	Flanking Active TSS	HUVEC	blood vessel
21	chr7:83865600-83866200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:83865600-83867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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