Variant report

Variant	rs9548496
Chromosome Location	chr13:39418947-39418948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39417946..39420747-chr13:39428999..39430936,2	MCF-7	breast:
2	chr13:39417841..39420458-chr13:39422744..39425359,3	MCF-7	breast:
3	chr13:39417729..39421229-chr13:39421546..39423980,3	K562	blood:
4	chr13:39418531..39421229-chr13:39421546..39423488,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11618742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864816	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12869426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12869876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12869917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875224	1.00[ASN][1000 genomes]
rs1333506	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1333508	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1333509	0.95[AFR][1000 genomes]
rs1945496	1.00[ASN][1000 genomes]
rs34127262	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35252750	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35429023	1.00[ASN][1000 genomes]
rs35459396	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35657252	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35944548	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986835	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36088006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280113	0.85[AMR][1000 genomes]
rs4287442	1.00[ASN][1000 genomes]
rs4303350	0.85[AMR][1000 genomes]
rs4334155	1.00[ASN][1000 genomes]
rs4369521	1.00[ASN][1000 genomes]
rs4397983	1.00[ASN][1000 genomes]
rs4426230	1.00[ASN][1000 genomes]
rs4426231	1.00[ASN][1000 genomes]
rs4533148	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4536338	0.85[AMR][1000 genomes]
rs4643179	1.00[ASN][1000 genomes]
rs4943606	1.00[ASN][1000 genomes]
rs4943607	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4943608	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943609	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943610	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943611	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943612	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943615	1.00[ASN][1000 genomes]
rs61945515	1.00[ASN][1000 genomes]
rs61945516	1.00[ASN][1000 genomes]
rs61947983	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61948017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61948018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66889481	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71198492	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423186	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71423187	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71439788	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71439789	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7328953	1.00[ASN][1000 genomes]
rs7331927	1.00[ASN][1000 genomes]
rs7982313	1.00[ASN][1000 genomes]
rs9532285	1.00[ASN][1000 genomes]
rs9532287	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9532288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532289	0.85[AMR][1000 genomes]
rs9532290	0.92[AMR][1000 genomes]
rs9532291	0.85[AMR][1000 genomes]
rs9532294	1.00[ASN][1000 genomes]
rs9532297	1.00[ASN][1000 genomes]
rs9532298	1.00[ASN][1000 genomes]
rs9532310	1.00[ASN][1000 genomes]
rs9548466	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9548467	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9548468	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9548471	1.00[ASN][1000 genomes]
rs9548473	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548474	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548475	1.00[ASN][1000 genomes]
rs9548476	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548478	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548479	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548480	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548488	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548492	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548498	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548507	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9548515	1.00[ASN][1000 genomes]
rs9548521	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9548523	1.00[ASN][1000 genomes]
rs9548524	1.00[ASN][1000 genomes]
rs9548525	1.00[ASN][1000 genomes]
rs9548531	1.00[ASN][1000 genomes]
rs9548532	1.00[ASN][1000 genomes]
rs9548535	1.00[ASN][1000 genomes]
rs9548546	1.00[CHB][hapmap]
rs9548550	1.00[CHB][hapmap]
rs9548552	1.00[ASN][1000 genomes]
rs9548554	1.00[ASN][1000 genomes]
rs9548555	1.00[ASN][1000 genomes]
rs9548556	1.00[ASN][1000 genomes]
rs9548557	1.00[ASN][1000 genomes]
rs9548560	1.00[ASN][1000 genomes]
rs9548562	1.00[ASN][1000 genomes]
rs9548563	1.00[ASN][1000 genomes]
rs9548569	1.00[ASN][1000 genomes]
rs9548573	1.00[ASN][1000 genomes]
rs9548576	1.00[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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9548496	MAB21L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39389400-39423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:39394600-39423000	Weak transcription	Fetal Kidney	kidney
3	chr13:39414000-39420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:39414600-39422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:39414600-39425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:39416200-39450200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:39418400-39419600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:39418600-39420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:39418800-39419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:39418800-39419000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:39418800-39419200	Enhancers	Fetal Heart	heart
12	chr13:39418800-39419600	Enhancers	Skeletal Muscle Female	skeletal muscle

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