Variant report

Variant	rs6829144
Chromosome Location	chr4:48489769-48489770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:48489656-48489808	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48489612..48492154-chr4:48493154..48495602,2	K562	blood:

Variant related genes	Relation type
ZAR1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10031777	0.81[ASN][1000 genomes]
rs11945562	0.89[ASN][1000 genomes]
rs12506098	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12645501	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1507865	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1712768	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1712772	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17656010	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17656040	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17656076	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17656094	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2940324	0.85[AMR][1000 genomes]
rs2945330	0.83[EUR][1000 genomes]
rs3107022	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34635008	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4536901	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4695391	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59686413	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62311296	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6447640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6811148	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6829716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836632	0.88[ASN][1000 genomes]
rs6855022	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7654770	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7678379	0.87[ASN][1000 genomes]
rs7697851	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs776584	0.86[AMR][1000 genomes]
rs776590	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776591	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776601	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs796555	0.86[AMR][1000 genomes]
rs937888	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937889	0.86[AMR][1000 genomes]
rs992423	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers 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	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6829144	SLC10A4	cis	lung	GTEx
rs6829144	OCIAD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48485200-48490200	Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr4:48486200-48492000	Weak transcription	Aorta	Aorta
3	chr4:48486600-48491800	Weak transcription	Pancreas	Pancrea
4	chr4:48487200-48505800	Weak transcription	A549	lung
5	chr4:48489200-48490400	Strong transcription	K562	blood
6	chr4:48489600-48491600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links