Variant report

Variant	rs4889069
Chromosome Location	chr16:80061338-80061339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80061252..80063823-chr16:80117741..80119543,2	MCF-7	breast:
2	chr16:80040089..80044174-chr16:80060281..80063913,4	MCF-7	breast:
3	chr16:80059154..80062850-chr16:80065920..80069891,5	MCF-7	breast:
4	chr16:80061308..80063020-chr16:80110372..80112564,2	MCF-7	breast:
5	chr16:80052898..80058811-chr16:80059069..80065197,11	MCF-7	breast:
6	chr16:80040033..80042042-chr16:80061174..80063546,2	K562	blood:
7	chr16:80061244..80063092-chr16:80096922..80099593,2	MCF-7	breast:
8	chr16:80012173..80015037-chr16:80061330..80063455,2	K562	blood:
9	chr16:80051481..80054356-chr16:80061136..80062736,2	K562	blood:
10	chr16:80048792..80050777-chr16:80060648..80062252,3	MCF-7	breast:
11	chr16:80060384..80062821-chr16:80069228..80071837,2	MCF-7	breast:

No data

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12051173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12325508	0.88[JPT][hapmap]
rs16944260	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16944264	0.91[AMR][1000 genomes]
rs16952080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16952105	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16952121	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16952193	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16952202	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16952283	0.91[AMR][1000 genomes]
rs16952289	0.91[AMR][1000 genomes]
rs16952348	0.91[AMR][1000 genomes]
rs16952365	0.91[AMR][1000 genomes]
rs16952392	0.91[AMR][1000 genomes]
rs16952422	0.91[AMR][1000 genomes]
rs16952526	0.91[AMR][1000 genomes]
rs4134367	0.88[ASN][1000 genomes]
rs4888068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs4888071	0.91[AMR][1000 genomes]
rs4888076	0.91[AMR][1000 genomes]
rs4888077	0.91[AMR][1000 genomes]
rs4889078	0.91[AMR][1000 genomes]
rs4889080	0.81[ASN][1000 genomes]
rs4889082	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4889085	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes]
rs4889101	0.91[AMR][1000 genomes]
rs4889103	0.91[AMR][1000 genomes]
rs4889104	0.91[AMR][1000 genomes]
rs59263895	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73573920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73573922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73575842	0.82[AFR][1000 genomes]
rs8063394	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80058000-80062200	Weak transcription	Esophagus	oesophagus
2	chr16:80060200-80061400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr16:80060400-80061800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr16:80060400-80062400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80060400-80063600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:80060400-80064600	Enhancers	HMEC	breast
7	chr16:80060600-80061400	Enhancers	Duodenum Mucosa	Duodenum
8	chr16:80060600-80061600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr16:80060600-80061800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr16:80060800-80061400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:80060800-80061400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:80060800-80061400	Active TSS	Stomach Smooth Muscle	stomach
13	chr16:80060800-80061400	Enhancers	NH-A	brain
14	chr16:80060800-80061600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:80060800-80061600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:80060800-80061600	Flanking Active TSS	HSMMtube	muscle
17	chr16:80060800-80061800	Enhancers	Fetal Intestine Large	intestine
18	chr16:80060800-80062000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:80060800-80062000	Enhancers	Fetal Intestine Small	intestine
20	chr16:80060800-80062000	Flanking Active TSS	A549	lung
21	chr16:80060800-80062200	Enhancers	Primary hematopoietic stem cells	blood
22	chr16:80060800-80063400	Enhancers	Fetal Stomach	stomach
23	chr16:80061000-80061400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:80061000-80061400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:80061000-80061400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr16:80061000-80061400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr16:80061000-80061400	Enhancers	Brain Anterior Caudate	brain
28	chr16:80061000-80061400	Enhancers	Spleen	Spleen
29	chr16:80061000-80061600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:80061000-80061600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr16:80061000-80061600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:80061000-80061600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:80061000-80061600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:80061000-80061600	Enhancers	Thymus	Thymus
35	chr16:80061000-80061800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr16:80061000-80061800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr16:80061000-80061800	Enhancers	Placenta	Placenta
38	chr16:80061000-80061800	Enhancers	Small Intestine	intestine
39	chr16:80061000-80061800	Flanking Active TSS	Hela-S3	cervix
40	chr16:80061000-80062000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:80061000-80062000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:80061000-80062000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:80061000-80062000	Enhancers	Fetal Thymus	thymus
44	chr16:80061200-80061400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr16:80061200-80061400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:80061200-80061400	Enhancers	Adipose Nuclei	Adipose
47	chr16:80061200-80061400	Enhancers	Psoas Muscle	Psoas
48	chr16:80061200-80061400	Enhancers	Right Atrium	heart
49	chr16:80061200-80061400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:80061200-80061400	Flanking Active TSS	HUVEC	blood vessel

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