Variant report

Variant	rs7315271
Chromosome Location	chr12:39164731-39164732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10161183	0.98[EUR][1000 genomes]
rs10444553	0.90[JPT][hapmap]
rs10506126	0.81[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap]
rs10506127	0.80[MEX][hapmap]
rs10783329	0.80[AMR][1000 genomes]
rs10783333	0.81[CEU][hapmap];0.98[GIH][hapmap];0.86[MEX][hapmap]
rs10875953	0.81[CEU][hapmap]
rs10876008	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs11169258	1.00[ASW][hapmap];0.80[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap]
rs11169482	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169518	0.96[CEU][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes]
rs11169519	0.96[CEU][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes]
rs11169535	0.96[CEU][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes]
rs11169616	0.89[EUR][1000 genomes]
rs11169768	0.90[JPT][hapmap]
rs11169807	1.00[ASW][hapmap]
rs12300353	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314639	0.81[CEU][hapmap]
rs12424190	0.80[CEU][hapmap];0.91[GIH][hapmap];0.80[MEX][hapmap]
rs1386018	0.80[CEU][hapmap]
rs1400280	1.00[ASW][hapmap];0.90[JPT][hapmap]
rs1403521	1.00[ASW][hapmap];0.90[JPT][hapmap]
rs1516558	0.90[JPT][hapmap]
rs1523118	1.00[ASW][hapmap];0.90[JPT][hapmap]
rs1586373	0.95[CEU][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes]
rs2388172	0.90[JPT][hapmap]
rs35749392	0.88[EUR][1000 genomes]
rs3759139	1.00[ASW][hapmap];0.80[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap]
rs3803020	1.00[ASW][hapmap];0.90[JPT][hapmap]
rs3887436	0.96[CEU][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes]
rs4384412	0.90[JPT][hapmap]
rs4595586	0.90[JPT][hapmap]
rs4616077	1.00[ASW][hapmap];0.80[CEU][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap]
rs56344858	0.87[EUR][1000 genomes]
rs6580849	0.89[JPT][hapmap]
rs7309400	0.86[AMR][1000 genomes]
rs7312879	0.86[AMR][1000 genomes]
rs7957376	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7957999	0.81[EUR][1000 genomes]
rs7960616	0.80[CEU][hapmap]
rs7962363	0.90[JPT][hapmap]
rs7970097	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7315271	ALG10B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39118400-39165600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:39144200-39173800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:39146400-39165400	Weak transcription	GM12878-XiMat	blood
5	chr12:39152200-39171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:39152600-39165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:39152800-39165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:39153800-39165400	Weak transcription	HMEC	breast
9	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:39154600-39170800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:39155200-39165600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:39155200-39169200	Weak transcription	Left Ventricle	heart
13	chr12:39156400-39169400	Weak transcription	NHEK	skin
14	chr12:39157200-39165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:39157400-39165600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:39157600-39165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:39158000-39165800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:39158800-39165800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:39160800-39165600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:39161200-39165600	Weak transcription	Liver	Liver
21	chr12:39162800-39164800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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