Variant report

Variant	rs59305400
Chromosome Location	chr16:81618059-81618060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81477202..81480429-chr16:81614800..81620694,9	MCF-7	breast:
2	chr16:81617511..81619449-chr16:81710211..81712244,2	K562	blood:
3	chr16:81618056..81619938-chr16:81624471..81626536,2	K562	blood:
4	chr16:81613714..81617708-chr16:81617863..81620538,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13331139	0.96[ASN][1000 genomes]
rs56787727	0.96[ASN][1000 genomes]
rs60730964	0.96[ASN][1000 genomes]
rs73596482	1.00[ASN][1000 genomes]
rs73596490	1.00[ASN][1000 genomes]
rs73596500	1.00[ASN][1000 genomes]
rs73596501	1.00[ASN][1000 genomes]
rs8054441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
2	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:81593400-81619200	Weak transcription	K562	blood
8	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:81602600-81619200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:81604200-81619200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:81606600-81619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:81608000-81623400	Weak transcription	Fetal Brain Male	brain
13	chr16:81612200-81618400	Enhancers	Placenta	Placenta
14	chr16:81612600-81621400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:81613600-81620800	Enhancers	Stomach Mucosa	stomach
16	chr16:81613600-81621200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:81614200-81618200	Genic enhancers	Fetal Intestine Small	intestine
18	chr16:81614400-81618600	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:81615000-81618200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:81615000-81618800	Enhancers	Esophagus	oesophagus
21	chr16:81615000-81619400	Enhancers	Small Intestine	intestine
22	chr16:81615400-81618600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr16:81615600-81618400	Enhancers	Brain Substantia Nigra	brain
24	chr16:81615600-81619600	Enhancers	Lung	lung
25	chr16:81615600-81620600	Genic enhancers	NHEK	skin
26	chr16:81615800-81618600	Strong transcription	Fetal Thymus	thymus
27	chr16:81615800-81620400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:81615800-81623800	Strong transcription	Primary B cells from cord blood	blood
29	chr16:81615800-81624800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:81616000-81618200	Enhancers	Brain Cingulate Gyrus	brain
31	chr16:81616000-81618200	Enhancers	Brain Hippocampus Middle	brain
32	chr16:81616000-81618600	Enhancers	Fetal Muscle Leg	muscle
33	chr16:81616000-81618600	Enhancers	HSMMtube	muscle
34	chr16:81616000-81621000	Weak transcription	Thymus	Thymus
35	chr16:81616200-81618400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:81616200-81618400	Enhancers	NHDF-Ad	bronchial
37	chr16:81616200-81618600	Strong transcription	Primary T cells from cord blood	blood
38	chr16:81616200-81618600	Enhancers	Adipose Nuclei	Adipose
39	chr16:81616200-81618600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81616400-81618200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr16:81616400-81619200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:81616400-81619400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:81616600-81618800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:81616600-81619200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:81616600-81619400	Enhancers	Hela-S3	cervix
46	chr16:81616600-81619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:81616800-81618200	Enhancers	NHLF	lung
48	chr16:81616800-81619200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:81616800-81619400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:81616800-81619800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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