Variant report

Variant	rs73317837
Chromosome Location	chr7:18220263-18220264
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:18219431..18222297-chr7:18224982..18227511,2	K562	blood:
2	chr7:18218172..18221072-chr7:18227014..18228909,2	K562	blood:
3	chr7:17977338..17980907-chr7:18216760..18220938,4	K562	blood:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56835650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58138464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495781	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60401540	0.86[AFR][1000 genomes]
rs6951366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315753	0.81[AFR][1000 genomes]
rs73315759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315761	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315764	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315765	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315775	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317832	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317845	1.00[AMR][1000 genomes]
rs73317847	1.00[AMR][1000 genomes]
rs7341461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022746	chr7:17978103-18233458	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18216000-18221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:18216800-18220800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:18218000-18225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:18218200-18221000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:18218200-18221800	Weak transcription	Fetal Heart	heart
6	chr7:18218800-18221000	Enhancers	K562	blood
7	chr7:18220200-18220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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