Variant report

Variant	rs2927310
Chromosome Location	chr16:81531606-81531607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81531372..81533537-chr16:81537305..81539554,2	MCF-7	breast:
2	chr16:81478427..81480375-chr16:81529465..81532019,2	MCF-7	breast:
3	chr16:81531279..81532867-chr16:81537280..81539094,2	MCF-7	breast:
4	chr16:81515811..81518675-chr16:81530848..81533048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	1.00[AMR][1000 genomes]
rs28493867	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28669745	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs73596462	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934014	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935244	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	1.00[AMR][1000 genomes]
rs9935646	1.00[AMR][1000 genomes]
rs9936412	1.00[AMR][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:111 , 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	chr16:81515200-81532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:81519600-81532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:81520400-81532200	Enhancers	Spleen	Spleen
7	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
8	chr16:81522600-81532200	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:81523600-81531800	Enhancers	Stomach Mucosa	stomach
10	chr16:81524400-81533800	Enhancers	Liver	Liver
11	chr16:81524600-81532200	Enhancers	Pancreas	Pancrea
12	chr16:81524800-81532200	Genic enhancers	Fetal Intestine Small	intestine
13	chr16:81525200-81536000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:81526000-81531800	Enhancers	Lung	lung
16	chr16:81526000-81533200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:81526800-81534800	Enhancers	Primary hematopoietic stem cells	blood
18	chr16:81527200-81532400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr16:81527200-81534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:81527200-81534800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr16:81527200-81536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:81527400-81532600	Enhancers	Primary B cells from cord blood	blood
23	chr16:81527400-81532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:81527400-81533600	Weak transcription	HSMM	muscle
25	chr16:81527400-81535200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:81527400-81544000	Genic enhancers	A549	lung
27	chr16:81527600-81535000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:81527800-81532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81527800-81538400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:81528000-81532400	Strong transcription	HepG2	liver
33	chr16:81528000-81534200	Weak transcription	Osteobl	bone
34	chr16:81528200-81531800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:81528200-81532800	Weak transcription	NHDF-Ad	bronchial
36	chr16:81528200-81534200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:81528400-81533800	Strong transcription	Fetal Stomach	stomach
39	chr16:81528400-81534400	Weak transcription	NH-A	brain
40	chr16:81528600-81532200	Weak transcription	Brain Germinal Matrix	brain
41	chr16:81528800-81533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:81528800-81534400	Enhancers	Primary B cells from peripheral blood	blood
43	chr16:81528800-81534600	Weak transcription	Primary T cells from cord blood	blood
44	chr16:81528800-81536400	Weak transcription	Fetal Kidney	kidney
45	chr16:81529000-81532000	Enhancers	Small Intestine	intestine
46	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
47	chr16:81529000-81546800	Weak transcription	Dnd41	blood
48	chr16:81529200-81532600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr16:81529400-81532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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