Variant report

Variant	rs741323
Chromosome Location	chr7:104504393-104504394
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	chr7:103845618..103848570-chr7:104501714..104504552,2	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10085831	0.87[ASN][1000 genomes]
rs10226913	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10226989	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10252576	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10267013	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10953453	0.90[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12055895	0.81[EUR][1000 genomes]
rs12672828	0.81[EUR][1000 genomes]
rs13232695	0.82[CHD][hapmap]
rs17706774	0.80[EUR][1000 genomes]
rs2005888	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192931	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2385466	0.90[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs2891785	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs3955473	0.88[EUR][1000 genomes]
rs4382394	0.90[CEU][hapmap];0.87[TSI][hapmap]
rs4571661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730052	0.90[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4730053	0.90[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs59264482	0.87[EUR][1000 genomes]
rs59335487	0.81[EUR][1000 genomes]
rs62485396	0.88[EUR][1000 genomes]
rs6466028	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6944796	0.91[ASN][1000 genomes]
rs6958846	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73184012	0.90[ASN][1000 genomes]
rs7783749	0.81[ASN][1000 genomes]
rs9885984	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs741323	RINT1	cis	parietal	SCAN
rs741323	SLC26A4	cis	cerebellum	SCAN
rs741323	LRWD1	cis	parietal	SCAN
rs741323	EPHB4	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104481600-104514400	Weak transcription	Fetal Kidney	kidney
2	chr7:104501600-104504800	Strong transcription	Fetal Intestine Small	intestine
3	chr7:104503000-104505000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr7:104503600-104504800	Weak transcription	Fetal Intestine Large	intestine
5	chr7:104503800-104504400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:104503800-104505000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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