Variant report

Variant	rs322786
Chromosome Location	chr7:127754984-127754985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127745939..127747505-chr7:127754984..127756729,2	K562	blood:
2	chr7:127752221..127755184-chr7:127757335..127759629,2	K562	blood:
3	chr7:127752333..127755170-chr7:127769185..127771245,2	K562	blood:
4	chr7:127753827..127756427-chr7:127766047..127767569,2	K562	blood:
5	chr7:127748855..127752191-chr7:127753186..127755504,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs178733	0.81[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs184430	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs322738	0.85[ASN][1000 genomes]
rs322752	0.82[ASN][1000 genomes]
rs322755	0.82[EUR][1000 genomes]
rs322756	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322760	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322761	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322762	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322765	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322766	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322768	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322770	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322771	0.90[ASN][1000 genomes]
rs322775	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs322778	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs322780	0.97[ASN][1000 genomes]
rs322782	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322783	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322784	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322785	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322787	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322790	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322791	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322806	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322808	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322809	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322811	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322812	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322815	0.81[AMR][1000 genomes]
rs322818	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.90[YRI][hapmap];0.95[ASN][1000 genomes]
rs5028619	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960004	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs322786	CCDC136	cis	parietal	SCAN
rs322786	EEF2K	trans	cerebellum	SCAN
rs322786	GPR37	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127752800-127755800	Weak transcription	Esophagus	oesophagus
3	chr7:127753200-127755200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:127753200-127755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:127753200-127755400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:127753400-127757200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:127753400-127757400	Weak transcription	Fetal Thymus	thymus
8	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
9	chr7:127753600-127755000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:127753800-127757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:127754000-127755000	Weak transcription	Spleen	Spleen
12	chr7:127754600-127756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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