Variant report

Variant	rs7788583
Chromosome Location	chr7:47869038-47869039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47868146..47869963-chr7:47873360..47875120,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10429127	0.84[AMR][1000 genomes]
rs13241400	0.83[CEU][hapmap]
rs13246591	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs17131825	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs17131827	0.81[CEU][hapmap]
rs17545682	0.83[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs17659820	0.85[JPT][hapmap]
rs17710723	0.82[JPT][hapmap]
rs2053985	0.81[MEX][hapmap]
rs34703899	0.80[AMR][1000 genomes]
rs35781192	0.84[AMR][1000 genomes]
rs3734931	0.85[JPT][hapmap]
rs4391316	0.80[AMR][1000 genomes]
rs66755489	0.80[AMR][1000 genomes]
rs6950328	0.81[MEX][hapmap];0.82[AMR][1000 genomes]
rs7780916	0.83[CEU][hapmap]
rs7783849	0.85[JPT][hapmap]
rs7802098	0.83[CEU][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7788583	SUN3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:47855000-47880200	Weak transcription	Lung	lung
4	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:47865600-47871000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:47866400-47869800	Enhancers	HSMMtube	muscle
7	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:47866600-47869800	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:47867200-47871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
11	chr7:47867400-47869400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:47868200-47872600	Weak transcription	Fetal Heart	heart
14	chr7:47868200-47872600	Weak transcription	Right Ventricle	heart
15	chr7:47868200-47874400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:47868200-47876800	Weak transcription	Left Ventricle	heart
17	chr7:47868400-47869600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:47868400-47869600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:47868600-47870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:47868600-47873400	Weak transcription	Fetal Stomach	stomach
21	chr7:47868600-47879200	Weak transcription	Pancreas	Pancrea
22	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:47869000-47869200	Enhancers	HSMM	muscle

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