Variant report

Variant	rs1024676
Chromosome Location	chr7:146715861-146715862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10255503	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10255942	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10281702	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs10480369	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13220975	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13222738	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1404155	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1404156	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1524342	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs1524343	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1608628	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs1608629	0.89[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs1608630	0.83[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1608631	0.96[CEU][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs17170304	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2098114	0.87[JPT][hapmap]
rs2215338	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap]
rs34962711	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs35013414	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36031634	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4585658	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs4598172	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs62483988	0.89[ASN][1000 genomes]
rs7782438	0.90[ASN][1000 genomes]
rs7812091	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs961180	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs982512	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs982514	0.95[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027561	chr7:146308783-146762872	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465191	chr7:146406379-146759900	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv608941	chr7:146406379-146759900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv534580	chr7:146451347-146730531	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1021251	chr7:146522341-146802125	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv497792	chr7:146526101-146734852	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv531442	chr7:146669919-146755110	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv931938	chr7:146698437-146754853	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1029188	chr7:146699646-146756421	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1033175	chr7:146702080-146753471	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1029646	chr7:146702080-146788213	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1015266	chr7:146707047-146788213	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2761380	chr7:146707059-146788225	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1024676	PRSS1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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

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