Variant report

Variant	rs1512342
Chromosome Location	chr4:149250783-149250784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11099694	0.89[ASW][hapmap];0.80[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13114315	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13116099	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121960	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13129830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149615	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1546531	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17621119	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358336	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295241	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535600	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6815984	0.82[GIH][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs7438918	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1512342	EDNRA	cis	cerebellum	SCAN

Chromatin state (count:18 , 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	chr4:149244400-149257600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:149245000-149251200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:149245200-149251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:149245400-149251200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:149245400-149251400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:149245400-149257200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:149247400-149252000	Weak transcription	Aorta	Aorta
9	chr4:149248400-149252800	Enhancers	Fetal Heart	heart
10	chr4:149249400-149251400	Weak transcription	Right Ventricle	heart
11	chr4:149249400-149252800	Weak transcription	Lung	lung
12	chr4:149249400-149261400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:149249400-149263200	Weak transcription	Right Atrium	heart
14	chr4:149249400-149271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:149249600-149252000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:149249800-149251400	Weak transcription	Psoas Muscle	Psoas
17	chr4:149250000-149253800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:149250400-149251400	Weak transcription	Left Ventricle	heart

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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