Variant report

Variant	rs12927652
Chromosome Location	chr16:81382157-81382158
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81348222..81350372-chr16:81380665..81382288,2	MCF-7	breast:
2	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
3	chr16:81294148..81296098-chr16:81380878..81383413,2	MCF-7	breast:
4	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
5	chr16:81068493..81070605-chr16:81379712..81382493,2	MCF-7	breast:
6	chr16:81381387..81384964-chr16:81385741..81388867,5	K562	blood:
7	chr16:81347335..81348972-chr16:81380044..81382271,2	MCF-7	breast:
8	chr16:81381387..81385191-chr16:81386059..81389530,5	K562	blood:
9	chr16:81380543..81383435-chr16:81390394..81393830,4	K562	blood:
10	chr16:81343775..81345598-chr16:81381932..81384912,2	MCF-7	breast:
11	chr16:81327170..81331013-chr16:81381065..81384742,3	MCF-7	breast:
12	chr16:81353685..81355203-chr16:81380884..81382518,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166454	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000260213	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11643932	0.82[ASN][1000 genomes]
rs12103052	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12448813	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12920172	0.86[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12921222	0.93[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12925218	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12929924	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12933277	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12934500	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1564116	1.00[CEU][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16955063	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1820260	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35151165	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35378839	0.82[ASN][1000 genomes]
rs4888145	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889309	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6564872	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7194094	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7196957	0.83[AFR][1000 genomes]
rs7199407	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7199797	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7203482	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7203835	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs729181	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs8051314	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8055288	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8064146	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921359	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9922086	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9934557	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9938148	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	esv1792674	chr16:81375316-81391868	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:81380600-81388000	Weak transcription	Lung	lung
5	chr16:81380600-81396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81381000-81385200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:81381000-81392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:81381200-81385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:81381200-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:81381200-81385200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:81381200-81387600	Weak transcription	HepG2	liver
12	chr16:81381200-81388000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:81381200-81388000	Weak transcription	HMEC	breast
14	chr16:81381200-81390200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:81381200-81390400	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81381200-81391000	Weak transcription	Osteobl	bone
17	chr16:81381200-81396000	Weak transcription	Right Ventricle	heart
18	chr16:81381400-81385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:81381400-81385400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:81381600-81382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:81381800-81385400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81381800-81387200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:81382000-81382200	Active TSS	Fetal Heart	heart
24	chr16:81382000-81382400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr16:81382000-81382600	ZNF genes & repeats	A549	lung
26	chr16:81382000-81387200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:81382000-81388600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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