Variant report

Variant	rs12449079
Chromosome Location	chr16:81532336-81532337
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	chr16:81531279..81532867-chr16:81537280..81539094,2	MCF-7	breast:
3	chr16:81490986..81492646-chr16:81531978..81534213,2	MCF-7	breast:
4	chr16:81515811..81518675-chr16:81530848..81533048,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12448434	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12599608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12599762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17777143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17777180	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2926003	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2926004	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2966087	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2966088	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3901653	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7191608	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7192108	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7198696	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs898970	0.95[AMR][1000 genomes];0.86[EUR][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:110 , 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	chr16:81522400-81537000	Enhancers	HUVEC	blood vessel
6	chr16:81524400-81533800	Enhancers	Liver	Liver
7	chr16:81525200-81536000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:81526000-81533200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr16:81526800-81534800	Enhancers	Primary hematopoietic stem cells	blood
11	chr16:81527200-81532400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:81527200-81534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:81527200-81534800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:81527200-81536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81527400-81532600	Enhancers	Primary B cells from cord blood	blood
16	chr16:81527400-81532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:81527400-81533600	Weak transcription	HSMM	muscle
18	chr16:81527400-81535200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:81527400-81544000	Genic enhancers	A549	lung
20	chr16:81527600-81535000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:81527800-81532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:81527800-81538400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:81528000-81532400	Strong transcription	HepG2	liver
26	chr16:81528000-81534200	Weak transcription	Osteobl	bone
27	chr16:81528200-81532800	Weak transcription	NHDF-Ad	bronchial
28	chr16:81528200-81534200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr16:81528400-81533800	Strong transcription	Fetal Stomach	stomach
31	chr16:81528400-81534400	Weak transcription	NH-A	brain
32	chr16:81528800-81533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:81528800-81534400	Enhancers	Primary B cells from peripheral blood	blood
34	chr16:81528800-81534600	Weak transcription	Primary T cells from cord blood	blood
35	chr16:81528800-81536400	Weak transcription	Fetal Kidney	kidney
36	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
37	chr16:81529000-81546800	Weak transcription	Dnd41	blood
38	chr16:81529200-81532600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:81529600-81534000	Weak transcription	Fetal Lung	lung
41	chr16:81529800-81535600	Weak transcription	Fetal Brain Female	brain
42	chr16:81530200-81532400	Enhancers	Gastric	stomach
43	chr16:81530200-81532400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr16:81530400-81532400	Enhancers	Ovary	ovary
45	chr16:81530400-81532600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:81530400-81533000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:81530400-81535600	Weak transcription	Fetal Brain Male	brain
48	chr16:81530400-81536400	Weak transcription	Fetal Heart	heart
49	chr16:81530600-81532800	Weak transcription	Right Atrium	heart
50	chr16:81530600-81533000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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