Variant report

Variant	rs13333988
Chromosome Location	chr16:71682590-71682591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71681825..71684280-chr16:71756407..71758500,4	MCF-7	breast:
2	chr16:71682067..71684821-chr16:71701301..71704672,3	MCF-7	breast:
3	chr16:71659378..71661958-chr16:71682057..71684195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260593	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000261513	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11075896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11075897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334187	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334566	0.88[AFR][1000 genomes]
rs13337162	1.00[AFR][1000 genomes]
rs13337224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13338265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339574	0.95[AFR][1000 genomes]
rs28436203	1.00[AMR][1000 genomes]
rs28487278	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28556848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28681277	0.97[AFR][1000 genomes]
rs28712876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28744680	0.87[AFR][1000 genomes]
rs28757746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34113755	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55829421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930830	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209933	0.87[AFR][1000 genomes]
rs57187537	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57827931	0.95[AFR][1000 genomes]
rs58324033	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60173154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61258964	0.85[AFR][1000 genomes]
rs7196013	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582231	1.00[AMR][1000 genomes]
rs8048170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059131	1.00[AMR][1000 genomes]
rs8062948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063658	1.00[AMR][1000 genomes]
rs9302626	0.87[AFR][1000 genomes]
rs9302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921552	1.00[AFR][1000 genomes]
rs9924829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924862	1.00[AFR][1000 genomes]
rs9925371	0.97[AFR][1000 genomes]
rs9925712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926077	0.97[AFR][1000 genomes]
rs9927004	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930271	1.00[AMR][1000 genomes]
rs9930573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9930588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933587	1.00[AMR][1000 genomes]
rs9934778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9935867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
2	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:71665200-71682800	Weak transcription	HMEC	breast
4	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:71670000-71682600	Weak transcription	Brain Substantia Nigra	brain
6	chr16:71671200-71683200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:71671600-71686400	Weak transcription	Fetal Heart	heart
8	chr16:71671800-71704000	Weak transcription	Fetal Brain Male	brain
9	chr16:71672000-71682600	Weak transcription	NHLF	lung
10	chr16:71672000-71682800	Weak transcription	NH-A	brain
11	chr16:71672000-71741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:71672200-71682600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:71672200-71682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:71672400-71682800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:71672400-71686400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:71673400-71682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:71674800-71682800	Weak transcription	Gastric	stomach
18	chr16:71674800-71682800	Weak transcription	A549	lung
19	chr16:71674800-71704600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:71675000-71682600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:71675000-71682800	Weak transcription	Fetal Brain Female	brain
22	chr16:71675000-71724000	Weak transcription	Esophagus	oesophagus
23	chr16:71676400-71686200	Weak transcription	HUVEC	blood vessel
24	chr16:71676800-71683400	Weak transcription	Hela-S3	cervix
25	chr16:71676800-71692200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:71676800-71693600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:71677000-71683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:71677000-71683000	Weak transcription	Ovary	ovary
29	chr16:71677800-71688800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:71678600-71682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71678600-71682800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:71678800-71682600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr16:71678800-71682800	Weak transcription	Dnd41	blood
34	chr16:71679000-71685000	Strong transcription	Adipose Nuclei	Adipose
35	chr16:71679000-71693000	Strong transcription	HSMM	muscle
36	chr16:71679200-71693000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:71679800-71682600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:71680000-71682800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr16:71680000-71682800	Weak transcription	Aorta	Aorta
40	chr16:71680000-71682800	Weak transcription	Thymus	Thymus
41	chr16:71680000-71683200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:71680400-71682600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:71680600-71684600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:71680600-71687400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr16:71680800-71682600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:71680800-71683000	Weak transcription	K562	blood
47	chr16:71681000-71682800	Weak transcription	Fetal Thymus	thymus
48	chr16:71681000-71684000	Strong transcription	Fetal Lung	lung
49	chr16:71681000-71693000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr16:71681200-71683000	Weak transcription	Primary hematopoietic stem cells	blood

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