Variant report

Variant	rs765221
Chromosome Location	chr14:72801060-72801061
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	chr14:72800415..72803046-chr14:72803047..72804639,2	MCF-7	breast:
2	chr14:72785270..72787957-chr14:72798250..72801124,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10146126	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10149207	0.83[YRI][hapmap]
rs11620677	0.83[ASW][hapmap];0.87[CHD][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs1356842	0.89[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1402063	0.87[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1402064	0.87[CHB][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1996661	0.94[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2090736	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2139596	0.89[CEU][hapmap];0.80[TSI][hapmap]
rs2190509	0.89[CEU][hapmap]
rs2222311	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2238195	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2238206	0.82[YRI][hapmap]
rs2238207	0.85[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap]
rs2239244	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239246	0.87[CEU][hapmap];0.80[CHB][hapmap];0.89[LWK][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2250557	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2250666	0.87[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2529459	0.89[CEU][hapmap]
rs2529474	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2529476	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2681724	0.84[EUR][1000 genomes]
rs2681729	0.87[AMR][1000 genomes]
rs2681732	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2681738	0.83[AMR][1000 genomes]
rs2681739	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2681740	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2681750	0.89[CEU][hapmap]
rs2681770	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4899430	0.80[MEX][hapmap];0.96[TSI][hapmap]
rs699366	0.81[AMR][1000 genomes]
rs7151952	0.93[TSI][hapmap];0.82[YRI][hapmap]
rs847331	0.88[ASW][hapmap];0.94[CEU][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs847334	0.89[CEU][hapmap];0.80[TSI][hapmap]
rs847346	0.90[GIH][hapmap]
rs847348	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs847349	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847350	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs765221	PI16	trans	cerebellum	SCAN
rs765221	TMED10	cis	parietal	SCAN
rs765221	TTC9	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72796600-72801400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:72797400-72801400	Enhancers	Brain Germinal Matrix	brain
3	chr14:72797600-72804800	Enhancers	Fetal Lung	lung
4	chr14:72798200-72801200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:72798200-72801400	Enhancers	Fetal Brain Male	brain
6	chr14:72798800-72802200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:72799000-72801800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:72799000-72802200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:72799200-72802000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:72799200-72804200	Weak transcription	Spleen	Spleen
11	chr14:72800200-72801600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:72800600-72801400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:72800600-72801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:72800600-72801600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:72800600-72801600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:72801000-72802200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:72801000-72803000	Weak transcription	Fetal Stomach	stomach
18	chr14:72801000-72807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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