Variant report

Variant	rs7821327
Chromosome Location	chr8:10159985-10159986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10089244	0.85[JPT][hapmap]
rs10089263	0.85[JPT][hapmap]
rs10093246	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10105815	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10903323	0.83[CEU][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes]
rs11249981	0.86[ASN][1000 genomes]
rs11249982	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11249983	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11249986	0.82[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11249987	0.82[CHB][hapmap];0.88[MEX][hapmap];0.87[AMR][1000 genomes]
rs11249989	0.92[AMR][1000 genomes]
rs11778739	0.82[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs11782868	0.92[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs11784779	1.00[YRI][hapmap]
rs11990063	0.92[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11994805	0.85[JPT][hapmap]
rs12676847	0.86[CHB][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes]
rs13251198	0.80[JPT][hapmap]
rs17151588	0.91[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs17151700	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17151731	0.82[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs17151759	0.80[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes]
rs2003226	0.80[JPT][hapmap];0.92[AMR][1000 genomes]
rs36089236	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4240641	0.86[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4240642	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4278158	0.92[AMR][1000 genomes]
rs4307347	0.83[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4329276	0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4335130	0.87[MEX][hapmap]
rs4403412	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4419814	0.91[AMR][1000 genomes]
rs4503102	0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap]
rs4506212	0.89[ASN][1000 genomes]
rs4509385	0.82[CHB][hapmap]
rs4546664	0.82[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4577961	0.80[JPT][hapmap]
rs4840470	0.88[AMR][1000 genomes]
rs4840474	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4841311	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs56654851	0.89[ASN][1000 genomes]
rs6601428	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6601430	0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs6601431	0.89[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6994059	0.86[CHD][hapmap]
rs7003360	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs7004254	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7006402	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs723610	0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs764738	0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7818111	0.91[AMR][1000 genomes]
rs7825984	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7842154	0.82[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv518309	chr8:10156025-10159985	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv610264	chr8:10158428-10181176	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7821327	MFHAS1	cis	cerebellum	SCAN
rs7821327	TDH	cis	cerebellum	SCAN
rs7821327	FLJ10661	cis	cerebellum	SCAN
rs7821327	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
2	chr8:10149400-10163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:10151000-10160000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10151400-10177000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:10151400-10178800	Weak transcription	Spleen	Spleen
6	chr8:10153400-10167000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10154400-10163200	Weak transcription	Esophagus	oesophagus
8	chr8:10157200-10177600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:10157400-10161000	Enhancers	Fetal Brain Male	brain
10	chr8:10158000-10177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:10158200-10160200	Enhancers	Fetal Brain Female	brain
12	chr8:10158200-10161000	Enhancers	Brain Germinal Matrix	brain
13	chr8:10158200-10163400	Weak transcription	Primary T cells from cord blood	blood
14	chr8:10158600-10166800	Weak transcription	Lung	lung
15	chr8:10158600-10178200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:10158800-10177600	Weak transcription	Primary B cells from cord blood	blood
17	chr8:10159000-10160200	Weak transcription	Aorta	Aorta
18	chr8:10159000-10177400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:10159200-10170600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:10159600-10161400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:10159800-10160600	Enhancers	Liver	Liver
22	chr8:10159800-10161800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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