Variant report

Variant	rs12920728
Chromosome Location	chr16:81538842-81538843
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81537410..81540431-chr16:81541653..81543691,3	K562	blood:
2	chr16:81538598..81540305-chr16:81552129..81554762,2	K562	blood:
3	chr16:81537594..81540289-chr16:81665735..81668612,3	K562	blood:
4	chr16:81534254..81537068-chr16:81537419..81539023,2	MCF-7	breast:
5	chr16:81536056..81540431-chr16:81540581..81543691,4	K562	blood:
6	chr16:81537304..81540257-chr16:81554887..81558623,3	MCF-7	breast:
7	chr16:81531372..81533537-chr16:81537305..81539554,2	MCF-7	breast:
8	chr16:81534568..81536301-chr16:81536837..81539255,2	K562	blood:
9	chr16:81531279..81532867-chr16:81537280..81539094,2	MCF-7	breast:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12932649	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2925995	0.81[ASN][1000 genomes]
rs2927311	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966090	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2966091	0.90[ASN][1000 genomes]
rs35137323	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4889327	0.95[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66710707	0.80[ASN][1000 genomes]
rs7193307	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap]
rs8182218	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[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	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
7	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:93 , 50 per page) page: 1 2

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	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:81527400-81544000	Genic enhancers	A549	lung
5	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
9	chr16:81529000-81546800	Weak transcription	Dnd41	blood
10	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:81531200-81545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:81532400-81539800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:81532400-81546800	Weak transcription	Gastric	stomach
14	chr16:81532600-81539200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:81532800-81546600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:81533000-81546600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:81533200-81546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:81533600-81540800	Weak transcription	Brain Substantia Nigra	brain
19	chr16:81533600-81545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81533800-81545800	Weak transcription	Liver	Liver
21	chr16:81533800-81547000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:81533800-81550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:81534800-81539000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:81534800-81539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:81534800-81541200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:81534800-81543600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:81534800-81546800	Weak transcription	Colonic Mucosa	Colon
28	chr16:81534800-81550000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr16:81535000-81540200	Enhancers	Primary B cells from peripheral blood	blood
30	chr16:81535000-81542800	Weak transcription	Primary T cells from cord blood	blood
31	chr16:81535000-81544400	Weak transcription	HSMM	muscle
32	chr16:81535000-81544600	Weak transcription	NH-A	brain
33	chr16:81535000-81546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:81535200-81540400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr16:81535200-81541200	Weak transcription	Brain Anterior Caudate	brain
36	chr16:81535200-81544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:81535800-81539400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:81536000-81539200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:81536200-81539200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:81536200-81542800	Weak transcription	Right Ventricle	heart
41	chr16:81536200-81546600	Weak transcription	Right Atrium	heart
42	chr16:81536400-81540000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:81536600-81539600	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:81536600-81546600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:81536800-81539200	Enhancers	HMEC	breast
46	chr16:81536800-81539400	Enhancers	Esophagus	oesophagus
47	chr16:81536800-81541200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:81536800-81542000	Weak transcription	Brain Angular Gyrus	brain
49	chr16:81536800-81542600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr16:81536800-81545800	Weak transcription	Stomach Mucosa	stomach

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