Variant report

Variant	rs2126371
Chromosome Location	chr16:82810664-82810665
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	chr16:82810032..82812890-chr16:82813373..82816205,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11646849	0.90[ASN][1000 genomes]
rs12597383	0.84[ASN][1000 genomes]
rs12920400	0.94[ASN][1000 genomes]
rs12924560	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12925326	0.93[ASN][1000 genomes]
rs12927253	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12932553	0.85[ASN][1000 genomes]
rs12933198	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1350891	0.87[ASN][1000 genomes]
rs16958619	0.92[ASN][1000 genomes]
rs34271157	0.88[ASN][1000 genomes]
rs35518553	0.88[ASN][1000 genomes]
rs56219641	0.87[ASN][1000 genomes]
rs67501551	0.93[ASN][1000 genomes]
rs7184633	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1063412	chr16:82806653-82826507	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:82795800-82810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:82803800-82815600	Weak transcription	HSMM	muscle
4	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:82805000-82811800	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:82805600-82821600	Weak transcription	NHEK	skin
7	chr16:82806000-82813800	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:82806200-82811000	Weak transcription	Psoas Muscle	Psoas
9	chr16:82806200-82812800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:82806800-82813000	Weak transcription	Aorta	Aorta
11	chr16:82806800-82813000	Weak transcription	Right Ventricle	heart
12	chr16:82806800-82816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:82807000-82815400	Weak transcription	HSMMtube	muscle
14	chr16:82807200-82810800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr16:82807200-82811400	Weak transcription	Left Ventricle	heart
16	chr16:82807200-82817800	Weak transcription	HMEC	breast
17	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:82809400-82811000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:82810200-82815200	Weak transcription	Primary B cells from cord blood	blood
20	chr16:82810400-82810800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:82810400-82810800	Enhancers	GM12878-XiMat	blood
22	chr16:82810400-82811200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:82810400-82812000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:82810600-82815200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:82810600-82815200	Weak transcription	HUVEC	blood vessel
26	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links