Variant report

Variant	rs62046562
Chromosome Location	chr16:81528580-81528581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:81528561-81529887	K562	blood:	n/a	n/a
2	TAL1	chr16:81528457-81529883	K562	blood:	n/a	n/a
3	CHD2	chr16:81528457-81529070	K562	blood:	n/a	n/a
4	GATA1	chr16:81528562-81531164	K562	blood:	n/a	n/a
5	GATA1	chr16:81528316-81529972	PBDE	blood:	n/a	n/a
6	POLR2A	chr16:81528054-81529759	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81476822..81479616-chr16:81528551..81531319,2	MCF-7	breast:
2	chr1:11967644..11970692-chr16:81526745..81530304,3	K562	blood:

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000153815	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12445748	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62046563	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81510400-81533200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:81515200-81531600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:81517400-81531600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:81520400-81532200	Enhancers	Spleen	Spleen
9	chr16:81521000-81528600	Weak transcription	Primary T cells from cord blood	blood
10	chr16:81522200-81528800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
12	chr16:81522600-81528800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:81522600-81529800	Enhancers	Esophagus	oesophagus
14	chr16:81522600-81532200	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:81522800-81529800	Enhancers	Placenta	Placenta
16	chr16:81523600-81531800	Enhancers	Stomach Mucosa	stomach
17	chr16:81523800-81529000	Weak transcription	Ovary	ovary
18	chr16:81523800-81530800	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:81524000-81531000	Weak transcription	GM12878-XiMat	blood
20	chr16:81524200-81529800	Enhancers	Gastric	stomach
21	chr16:81524400-81530600	Enhancers	Right Atrium	heart
22	chr16:81524400-81531200	Enhancers	Duodenum Mucosa	Duodenum
23	chr16:81524400-81533800	Enhancers	Liver	Liver
24	chr16:81524600-81532200	Enhancers	Pancreas	Pancrea
25	chr16:81524800-81532200	Genic enhancers	Fetal Intestine Small	intestine
26	chr16:81525000-81528600	Genic enhancers	K562	blood
27	chr16:81525200-81528800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr16:81525200-81529600	Enhancers	Left Ventricle	heart
29	chr16:81525200-81536000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:81525400-81529400	Enhancers	HMEC	breast
31	chr16:81525400-81529800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:81525600-81530000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:81525600-81530400	Enhancers	Right Ventricle	heart
35	chr16:81525800-81529000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:81525800-81529600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:81525800-81529800	Enhancers	Adipose Nuclei	Adipose
38	chr16:81525800-81529800	Enhancers	Fetal Thymus	thymus
39	chr16:81526000-81529800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:81526000-81531800	Enhancers	Lung	lung
41	chr16:81526000-81533200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:81526200-81529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:81526400-81528600	Enhancers	Brain Germinal Matrix	brain
44	chr16:81526400-81528800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:81526400-81529400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:81526800-81528600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:81526800-81528600	Weak transcription	Brain Angular Gyrus	brain
48	chr16:81526800-81529000	Strong transcription	Dnd41	blood
49	chr16:81526800-81529800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:81526800-81530000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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