Variant report

Variant	rs59483768
Chromosome Location	chr7:69176474-69176475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11971626	1.00[EUR][1000 genomes]
rs11979460	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11982691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56661227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57210197	0.84[AFR][1000 genomes]
rs60431977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60651146	0.84[AFR][1000 genomes]
rs60659484	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61510749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61745341	1.00[EUR][1000 genomes]
rs6959561	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6976556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69162000-69186200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69172000-69180000	Weak transcription	Psoas Muscle	Psoas
3	chr7:69172000-69180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:69172400-69176800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:69173000-69176600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:69173400-69176800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:69173600-69176600	Enhancers	Brain Germinal Matrix	brain
8	chr7:69174000-69176600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69174000-69176600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:69174000-69176800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:69174600-69177800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:69174600-69179800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69174600-69180200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:69174600-69182200	Weak transcription	Right Atrium	heart
15	chr7:69175000-69179000	Weak transcription	Ovary	ovary
16	chr7:69176000-69179200	Weak transcription	Fetal Brain Male	brain
17	chr7:69176200-69176600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:69176200-69176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:69176200-69176800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:69176200-69177000	Weak transcription	Fetal Heart	heart
21	chr7:69176200-69177200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:69176200-69180400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:69176400-69176800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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