Variant report

Variant	rs11976368
Chromosome Location	chr7:50494207-50494208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50491516..50493659-chr7:50493993..50496799,2	K562	blood:
2	chr7:50490774..50493016-chr7:50493621..50495493,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499691	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.93[ASN][1000 genomes]
rs1107743	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.93[ASN][1000 genomes]
rs11575282	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11575286	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575321	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575322	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11575338	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	0.87[ASN][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	0.93[ASN][1000 genomes]
rs11575442	0.93[ASN][1000 genomes]
rs11575521	0.93[ASN][1000 genomes]
rs11575548	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.98[ASN][1000 genomes]
rs11575552	1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes]
rs11575553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575557	0.88[AFR][1000 genomes]
rs11575562	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575565	0.90[AFR][1000 genomes]
rs11575568	0.90[AFR][1000 genomes]
rs11575570	0.90[AFR][1000 genomes]
rs11575574	0.90[AFR][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11971146	0.90[AFR][1000 genomes]
rs11971434	0.90[AFR][1000 genomes]
rs11973116	0.90[AFR][1000 genomes]
rs11973441	0.90[AFR][1000 genomes]
rs11974930	0.90[AFR][1000 genomes]
rs11975450	0.90[AFR][1000 genomes]
rs11977135	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs11978010	0.90[AFR][1000 genomes]
rs11978591	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349491	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.93[ASN][1000 genomes]
rs17133817	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133826	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133832	0.90[AFR][1000 genomes]
rs17152012	0.90[AFR][1000 genomes]
rs17553036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634717	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.93[ASN][1000 genomes]
rs17635123	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2100279	0.87[ASN][1000 genomes]
rs2122817	0.88[CHB][hapmap];0.93[ASN][1000 genomes]
rs2242041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329367	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2329369	0.93[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.83[ASN][1000 genomes]
rs2876830	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs34672220	0.86[ASN][1000 genomes]
rs35399233	0.86[ASN][1000 genomes]
rs36117815	0.90[AFR][1000 genomes]
rs3779081	0.93[ASN][1000 genomes]
rs3807553	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4602840	0.93[ASN][1000 genomes]
rs56056130	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61016409	0.86[ASN][1000 genomes]
rs61742382	0.90[AFR][1000 genomes]
rs6944090	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs6959427	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6962370	0.82[ASN][1000 genomes]
rs71018475	0.81[ASN][1000 genomes]
rs73117270	0.93[ASN][1000 genomes]
rs73119230	0.93[ASN][1000 genomes]
rs73119239	0.93[ASN][1000 genomes]
rs73119245	0.93[ASN][1000 genomes]
rs73119251	0.93[ASN][1000 genomes]
rs73121271	0.93[ASN][1000 genomes]
rs73121282	0.91[ASN][1000 genomes]
rs73121285	0.91[ASN][1000 genomes]
rs73121287	0.91[ASN][1000 genomes]
rs73121290	0.91[ASN][1000 genomes]
rs73121292	0.91[ASN][1000 genomes]
rs73123220	0.87[ASN][1000 genomes]
rs73123247	0.87[ASN][1000 genomes]
rs73123249	0.87[ASN][1000 genomes]
rs73123251	0.87[ASN][1000 genomes]
rs73123254	0.87[ASN][1000 genomes]
rs73123257	0.87[ASN][1000 genomes]
rs73123261	0.87[ASN][1000 genomes]
rs73123264	0.87[ASN][1000 genomes]
rs73123266	0.87[ASN][1000 genomes]
rs73123283	0.84[ASN][1000 genomes]
rs73123285	0.84[ASN][1000 genomes]
rs73123291	0.84[ASN][1000 genomes]
rs73125208	0.82[ASN][1000 genomes]
rs73125215	0.82[ASN][1000 genomes]
rs73125225	0.82[ASN][1000 genomes]
rs73695642	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695660	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695663	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7455944	0.86[ASN][1000 genomes]
rs7777600	0.81[CHB][hapmap]
rs7797772	0.86[ASN][1000 genomes]
rs896308	0.93[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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
2	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11976368	GRB10	cis	cerebellum	SCAN
rs11976368	ASXL1	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50486600-50495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:50493400-50505800	Weak transcription	Thymus	Thymus
4	chr7:50494000-50494600	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr7:50494000-50495200	Enhancers	Fetal Intestine Large	intestine
6	chr7:50494200-50495200	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:50494200-50495200	Enhancers	Stomach Mucosa	stomach

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