Variant report

Variant	rs1513817
Chromosome Location	chr4:90062622-90062623
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	chr4:90056532..90059832-chr4:90060213..90062873,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10000140	1.00[ASN][1000 genomes]
rs10025332	0.92[AFR][1000 genomes]
rs10027874	1.00[ASN][1000 genomes]
rs10030342	1.00[ASN][1000 genomes]
rs11734085	1.00[ASN][1000 genomes]
rs12506327	1.00[ASN][1000 genomes]
rs12507819	1.00[ASN][1000 genomes]
rs13113298	1.00[ASN][1000 genomes]
rs13115669	1.00[ASN][1000 genomes]
rs13120109	1.00[ASN][1000 genomes]
rs13137443	1.00[ASN][1000 genomes]
rs13150503	1.00[ASN][1000 genomes]
rs1588730	1.00[ASN][1000 genomes]
rs17770341	1.00[ASN][1000 genomes]
rs17821540	1.00[ASN][1000 genomes]
rs17823587	1.00[ASN][1000 genomes]
rs2056012	1.00[ASN][1000 genomes]
rs2195755	1.00[ASN][1000 genomes]
rs33998578	1.00[ASN][1000 genomes]
rs34008667	1.00[ASN][1000 genomes]
rs34075854	1.00[ASN][1000 genomes]
rs34300408	1.00[ASN][1000 genomes]
rs34624010	1.00[ASN][1000 genomes]
rs35652620	1.00[ASN][1000 genomes]
rs35909707	1.00[ASN][1000 genomes]
rs36111123	1.00[ASN][1000 genomes]
rs5004788	1.00[ASN][1000 genomes]
rs62306389	1.00[ASN][1000 genomes]
rs62308627	1.00[ASN][1000 genomes]
rs6814023	1.00[ASN][1000 genomes]
rs6823660	1.00[ASN][1000 genomes]
rs6825767	0.88[AFR][1000 genomes]
rs6825804	0.92[AFR][1000 genomes]
rs6826021	0.98[AFR][1000 genomes]
rs6826703	0.91[AFR][1000 genomes]
rs6826754	0.81[AFR][1000 genomes]
rs6832298	0.90[AFR][1000 genomes]
rs6856010	1.00[ASN][1000 genomes]
rs72668193	0.92[AFR][1000 genomes]
rs72668195	0.92[AFR][1000 genomes]
rs72668196	0.92[AFR][1000 genomes]
rs72670003	0.91[AFR][1000 genomes]
rs756227	0.92[AFR][1000 genomes]
rs7668782	1.00[ASN][1000 genomes]
rs7697393	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv470052	chr4:90055898-90075384	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv830002	chr4:90056232-90258865	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1513817	FAM190A	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90056200-90071800	Weak transcription	Right Atrium	heart
2	chr4:90056400-90063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:90059000-90062800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:90059200-90064000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:90060600-90063000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:90061800-90064800	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links