Variant report

Variant	rs73712875
Chromosome Location	chr7:84440950-84440951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84438950..84442857-chr7:84443325..84445817,3	K562	blood:
2	chr7:84440104..84442892-chr7:84507245..84509038,2	K562	blood:
3	chr7:84438468..84441991-chr7:84448481..84451648,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1594382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17159428	0.81[AFR][1000 genomes]
rs57712948	0.81[AFR][1000 genomes]
rs60563867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390755	1.00[AMR][1000 genomes]
rs73711236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73712840	1.00[AMR][1000 genomes]
rs73712855	0.81[AFR][1000 genomes]
rs73712857	0.81[AFR][1000 genomes]
rs73712865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713543	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73713544	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7456968	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv888643	chr7:84196258-84453100	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2762684	chr7:84218035-84444871	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831049	chr7:84277599-84475710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv831050	chr7:84355996-84527261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84439600-84450000	Weak transcription	K562	blood
2	chr7:84440000-84441800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:84440200-84441000	Enhancers	Adipose Nuclei	Adipose
4	chr7:84440400-84441000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:84440400-84441000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:84440400-84441400	Enhancers	Osteobl	bone
7	chr7:84440400-84441800	Enhancers	HSMM	muscle
8	chr7:84440400-84441800	Enhancers	HSMMtube	muscle
9	chr7:84440600-84441000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:84440600-84441200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:84440600-84441200	Enhancers	Brain Substantia Nigra	brain
12	chr7:84440800-84441000	Enhancers	Right Atrium	heart
13	chr7:84440800-84441200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:84440800-84441200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:84440800-84441200	Enhancers	Brain Hippocampus Middle	brain
16	chr7:84440800-84441200	Enhancers	Fetal Lung	lung
17	chr7:84440800-84441200	Enhancers	NHLF	lung
18	chr7:84440800-84441400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:84440800-84441400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:84440800-84441400	Enhancers	NHDF-Ad	bronchial

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