Variant report

Variant	rs792627
Chromosome Location	chr7:124817906-124817907
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	chr7:124816634..124819440-chr7:124929772..124932344,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-4	chr7:124817698-124819369	ENSG00000224897

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1006334	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1021080	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10228686	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10252579	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10252798	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10254199	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10258873	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1026836	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1026839	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10269342	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10270051	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10274820	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1031955	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10500098	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1086964	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767649	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11767737	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11975363	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12533918	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12534466	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs12539580	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13224820	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13234368	0.85[CHB][hapmap];0.93[JPT][hapmap]
rs13234634	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1383749	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1383750	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1404898	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1427579	0.81[ASN][1000 genomes]
rs1454126	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471571	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1481327	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1481328	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481329	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1481330	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1481337	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1481338	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1481342	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1481343	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1525614	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1525618	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1525619	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1531716	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1552118	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1552120	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1600739	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1728929	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728930	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871770	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1871771	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1902003	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986124	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1994024	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1994025	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2170351	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2402763	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2968865	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs585608	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs589823	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs606229	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs607260	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs616697	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs628365	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs632459	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs635682	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs636161	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6466982	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6466989	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs648619	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs651869	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs659987	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs662165	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs665753	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs676037	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs683707	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs684345	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs685909	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs6942997	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6952915	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6954614	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6957525	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6977313	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs715937	0.82[AFR][1000 genomes]
rs719972	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs723444	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7776821	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7778875	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7779594	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7787605	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7792654	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7794565	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs7794959	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7797428	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7799712	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7802007	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7806530	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7810654	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs792616	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792617	0.82[AFR][1000 genomes]
rs792620	0.80[AFR][1000 genomes]
rs792628	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792637	0.82[AFR][1000 genomes]
rs900047	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs998054	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv970425	chr7:124812812-124822088	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs792627	RP11-3B12.1	cis	Artery Tibial	GTEx

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

No data

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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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