Variant report

Variant	rs6969309
Chromosome Location	chr7:12515847-12515848
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	chr7:12485193..12487796-chr7:12515501..12517755,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10267801	1.00[ASN][1000 genomes]
rs10273045	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276171	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488158	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12699381	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699388	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699391	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12699392	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13221702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235488	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13245635	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247370	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595800	1.00[ASN][1000 genomes]
rs1595802	1.00[ASN][1000 genomes]
rs17191008	1.00[ASN][1000 genomes]
rs17274870	1.00[ASN][1000 genomes]
rs17277369	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444044	1.00[ASN][1000 genomes]
rs17444141	1.00[ASN][1000 genomes]
rs17448913	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17541242	1.00[ASN][1000 genomes]
rs17544637	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866650	1.00[ASN][1000 genomes]
rs2033871	1.00[ASN][1000 genomes]
rs2053378	1.00[ASN][1000 genomes]
rs2053381	1.00[ASN][1000 genomes]
rs2053382	1.00[ASN][1000 genomes]
rs28366613	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34644264	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34868445	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915661	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589221	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719315	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721105	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721106	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721107	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721108	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447638	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62447639	1.00[ASN][1000 genomes]
rs62447640	1.00[ASN][1000 genomes]
rs62447641	1.00[ASN][1000 genomes]
rs62447642	1.00[ASN][1000 genomes]
rs62448293	1.00[ASN][1000 genomes]
rs62448562	1.00[ASN][1000 genomes]
rs62448563	1.00[ASN][1000 genomes]
rs62448566	1.00[ASN][1000 genomes]
rs62448568	1.00[ASN][1000 genomes]
rs62448593	1.00[ASN][1000 genomes]
rs62448594	1.00[ASN][1000 genomes]
rs62448596	1.00[ASN][1000 genomes]
rs62448597	1.00[ASN][1000 genomes]
rs62448600	1.00[ASN][1000 genomes]
rs62448602	1.00[ASN][1000 genomes]
rs62448619	1.00[ASN][1000 genomes]
rs62448620	1.00[ASN][1000 genomes]
rs62448621	1.00[ASN][1000 genomes]
rs62448623	1.00[ASN][1000 genomes]
rs62449509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460935	1.00[ASN][1000 genomes]
rs6460936	1.00[ASN][1000 genomes]
rs6460938	1.00[ASN][1000 genomes]
rs6460942	1.00[ASN][1000 genomes]
rs6944134	1.00[ASN][1000 genomes]
rs6944517	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945067	1.00[ASN][1000 genomes]
rs6948314	1.00[ASN][1000 genomes]
rs6948654	1.00[ASN][1000 genomes]
rs6961238	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966791	1.00[ASN][1000 genomes]
rs6968664	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968695	1.00[ASN][1000 genomes]
rs6970095	1.00[ASN][1000 genomes]
rs6977059	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791634	1.00[ASN][1000 genomes]
rs7796485	1.00[ASN][1000 genomes]
rs7802454	1.00[ASN][1000 genomes]
rs7808537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809263	1.00[ASN][1000 genomes]
rs7811374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv1801371	chr7:12498138-12522283	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv464377	chr7:12512802-12564128	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv606228	chr7:12512802-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv8048	chr7:12514460-12564736	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6969309	TMEM106B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12513600-12516200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:12514600-12516000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:12515200-12516000	Enhancers	Fetal Lung	lung
4	chr7:12515400-12516000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:12515600-12516000	Enhancers	K562	blood
6	chr7:12515600-12521000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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