Variant report

Variant	rs16958305
Chromosome Location	chr16:82724240-82724241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
2	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
3	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10514550	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs12446301	0.88[CHB][hapmap]
rs12599112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958145	0.88[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs16958148	0.88[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs16958212	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs16958216	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs16958248	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3844418	0.81[JPT][hapmap]
rs3852733	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
9	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
10	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
11	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
12	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
13	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
14	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
15	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
16	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
17	nsv526366	chr16:82721424-82726484	Weak transcription Enhancers Strong transcription	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16958305	SATB1	trans	lymphoblastoid	seeQTL
rs16958305	PLCG2	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82695400-82726600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:82709600-82728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:82709800-82727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:82710000-82727200	Weak transcription	NH-A	brain
6	chr16:82717200-82726600	Weak transcription	HMEC	breast
7	chr16:82718000-82726400	Weak transcription	NHEK	skin
8	chr16:82719400-82728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:82719600-82727200	Weak transcription	HSMMtube	muscle
10	chr16:82721400-82724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:82721800-82728400	Weak transcription	Right Ventricle	heart
12	chr16:82722000-82726600	Weak transcription	Left Ventricle	heart
13	chr16:82722000-82728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:82722200-82726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:82722600-82726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:82722600-82731600	Weak transcription	Psoas Muscle	Psoas
17	chr16:82723000-82726600	Weak transcription	Fetal Intestine Large	intestine
18	chr16:82723200-82726600	Weak transcription	Fetal Intestine Small	intestine
19	chr16:82724200-82725000	Strong transcription	Aorta	Aorta
20	chr16:82724200-82726200	Strong transcription	HSMM	muscle

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