Variant report

Variant	rs10434128
Chromosome Location	chr4:149245293-149245294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10024999	0.90[CHB][hapmap]
rs10434100	0.93[CEU][hapmap];0.80[CHB][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10434129	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519963	0.93[CEU][hapmap];0.80[CHB][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs11099692	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931777	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12506058	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12510074	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16998733	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs17024681	0.87[CEU][hapmap]
rs17484783	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs17484839	0.87[CEU][hapmap]
rs17484873	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs17485033	0.87[CEU][hapmap]
rs17582031	0.87[CEU][hapmap]
rs2048546	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs2063553	0.90[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2063554	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2063555	0.93[CEU][hapmap];0.80[CHB][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2063556	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2137330	0.93[CEU][hapmap];0.80[CHB][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28505258	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34296798	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835513	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61569758	0.87[EUR][1000 genomes]
rs6829009	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834935	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs6840422	0.87[CEU][hapmap]
rs72728499	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72729936	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7686433	0.93[CEU][hapmap];0.80[CHB][hapmap];0.87[EUR][1000 genomes]
rs7698307	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031815	chr4:149172485-149282928	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1028105	chr4:149199913-149284620	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537297	chr4:149199913-149284620	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1019350	chr4:149232430-149282117	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10434128	EDNRA	cis	lymphoblastoid	seeQTL
rs10434128	FCRL1	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149235000-149266800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149237000-149249600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr4:149237800-149246200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:149244400-149257600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:149244600-149245400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:149244600-149245400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:149244600-149245400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:149245000-149251200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:149245200-149245400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:149245200-149245400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:149245200-149245400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:149245200-149245600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:149245200-149251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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