Variant report

Variant	rs7814421
Chromosome Location	chr8:52841261-52841262
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	chr8:52830829..52832627-chr8:52841141..52842793,2	K562	blood:
2	chr8:52810247..52812644-chr8:52840469..52844124,3	K562	blood:

Variant related genes	Relation type
ENSG00000228801	Chromatin interaction
ENSG00000168300	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10086425	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10094042	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10101163	0.86[JPT][hapmap]
rs10105030	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1013621	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1013622	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11774370	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11781801	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782727	0.84[ASN][1000 genomes]
rs11786818	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11787499	0.86[JPT][hapmap]
rs12335014	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12677168	0.87[ASN][1000 genomes]
rs13252779	0.81[ASN][1000 genomes]
rs13252785	0.82[ASN][1000 genomes]
rs13256197	0.83[ASN][1000 genomes]
rs13263909	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13267241	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13268494	0.81[ASN][1000 genomes]
rs13275077	0.83[ASN][1000 genomes]
rs13276858	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13279123	0.81[ASN][1000 genomes]
rs1467197	0.92[ASN][1000 genomes]
rs1515688	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1517306	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1589079	0.84[EUR][1000 genomes]
rs16916858	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs16916952	0.85[JPT][hapmap]
rs2176121	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2395826	0.86[ASN][1000 genomes]
rs2395827	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28619907	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34619309	0.83[ASN][1000 genomes]
rs35293585	0.84[ASN][1000 genomes]
rs4242474	0.81[ASN][1000 genomes]
rs4242475	0.81[ASN][1000 genomes]
rs4242476	0.81[ASN][1000 genomes]
rs4242479	0.86[JPT][hapmap]
rs4565453	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4873611	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6473660	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6473666	0.83[EUR][1000 genomes]
rs6473667	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982622	0.87[ASN][1000 genomes]
rs6983708	0.87[ASN][1000 genomes]
rs6986544	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6986984	0.86[CHB][hapmap]
rs6988122	0.87[ASN][1000 genomes]
rs6990379	0.81[ASN][1000 genomes]
rs6993367	0.89[ASW][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7001651	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004698	0.82[ASN][1000 genomes]
rs7013360	0.81[ASN][1000 genomes]
rs7017926	0.83[ASN][1000 genomes]
rs718251	0.81[ASN][1000 genomes]
rs722495	0.81[ASN][1000 genomes]
rs7461587	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7462096	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[ASN][1000 genomes]
rs7820177	0.84[EUR][1000 genomes]
rs7827298	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7835856	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7843189	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs925762	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9298462	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7814421	PCMTD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
3	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
6	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
7	chr8:52837800-52851800	Weak transcription	Ovary	ovary
8	chr8:52838000-52853400	Weak transcription	Esophagus	oesophagus
9	chr8:52838800-52842200	Enhancers	Left Ventricle	heart
10	chr8:52840200-52842600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:52840600-52841800	Enhancers	Psoas Muscle	Psoas
12	chr8:52840800-52841800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:52840800-52842200	Enhancers	Pancreas	Pancrea
14	chr8:52841000-52841400	Weak transcription	Right Ventricle	heart
15	chr8:52841000-52841600	Enhancers	Lung	lung
16	chr8:52841000-52842200	Enhancers	Right Atrium	heart
17	chr8:52841000-52842400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:52841000-52843800	Enhancers	HUVEC	blood vessel

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