Variant report

Variant	rs4620944
Chromosome Location	chr16:82762605-82762606
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	chr16:82758028..82760301-chr16:82761456..82763834,2	K562	blood:
2	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1000078	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10438634	0.94[ASN][1000 genomes]
rs10514558	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10514559	0.81[ASN][1000 genomes]
rs1157118	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11646288	0.93[ASN][1000 genomes]
rs11646321	0.86[ASN][1000 genomes]
rs11647530	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11647888	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11648238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12448904	0.94[ASN][1000 genomes]
rs1462035	0.88[ASN][1000 genomes]
rs1462037	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1462043	0.86[AMR][1000 genomes]
rs17183029	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17183071	0.80[ASN][1000 genomes]
rs17183279	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17183490	0.80[ASN][1000 genomes]
rs17273696	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17274555	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17274793	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17274905	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2126369	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2318186	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2318187	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2318190	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28374534	0.88[ASN][1000 genomes]
rs4293370	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4559899	0.81[ASN][1000 genomes]
rs4783262	0.85[ASN][1000 genomes]
rs4783266	0.87[AMR][1000 genomes]
rs55713633	0.83[ASN][1000 genomes]
rs58786779	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62034474	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62034479	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62034480	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62034481	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62034482	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62034484	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7197336	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7197344	0.82[ASN][1000 genomes]
rs7197523	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7201087	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8044955	0.81[AMR][1000 genomes]
rs8046067	0.80[AMR][1000 genomes]
rs8046098	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82737600-82763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:82746400-82763000	Weak transcription	NH-A	brain
3	chr16:82749800-82768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:82750600-82765800	Weak transcription	HSMMtube	muscle
6	chr16:82756200-82763200	Weak transcription	Left Ventricle	heart
7	chr16:82756800-82763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:82760000-82763000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:82760400-82763400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:82760600-82763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82761000-82764200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82761000-82764400	Strong transcription	HSMM	muscle
13	chr16:82761000-82764800	Strong transcription	HMEC	breast
14	chr16:82761400-82762800	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:82761400-82764000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:82761600-82763800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr16:82762000-82762800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:82762000-82773800	Weak transcription	NHEK	skin
19	chr16:82762200-82763200	ZNF genes & repeats	HUVEC	blood vessel

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