Variant report

Variant	rs12448327
Chromosome Location	chr16:81396287-81396288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81390538..81392781-chr16:81395034..81396692,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035573	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11647874	0.91[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11859133	1.00[ASN][1000 genomes]
rs12447403	0.85[MEX][hapmap]
rs12925347	0.81[EUR][1000 genomes]
rs12925975	0.85[EUR][1000 genomes]
rs12929595	0.82[AMR][1000 genomes]
rs17188615	0.91[CEU][hapmap];0.89[GIH][hapmap];0.82[EUR][1000 genomes]
rs1862843	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1895539	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1946285	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1946287	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1981884	0.91[CEU][hapmap];0.96[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2081264	0.82[AMR][1000 genomes]
rs2216771	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2317127	0.87[EUR][1000 genomes]
rs2550738	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2550749	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs2608554	0.99[EUR][1000 genomes]
rs2608555	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap]
rs2615701	0.82[CEU][hapmap]
rs2911441	0.94[CEU][hapmap];0.99[EUR][1000 genomes]
rs310025	0.88[GIH][hapmap]
rs310032	0.95[CEU][hapmap];0.92[GIH][hapmap]
rs310034	0.94[EUR][1000 genomes]
rs310035	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs4889299	0.83[CEU][hapmap]
rs4889307	0.91[CEU][hapmap];0.81[GIH][hapmap]
rs4889308	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56256128	0.95[ASN][1000 genomes]
rs6564871	0.95[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs7191409	0.91[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9673346	0.83[EUR][1000 genomes]
rs9673795	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9925814	1.00[YRI][hapmap]
rs9937004	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81382600-81398600	Weak transcription	Fetal Thymus	thymus
4	chr16:81383400-81398000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81383600-81398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:81384000-81398400	Weak transcription	NH-A	brain
7	chr16:81384000-81404800	Weak transcription	Stomach Mucosa	stomach
8	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
9	chr16:81384200-81434600	Weak transcription	NHLF	lung
10	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
11	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:81385800-81399800	Strong transcription	Primary T cells from cord blood	blood
15	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
16	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:81387400-81400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81388000-81397200	Weak transcription	Brain Anterior Caudate	brain
23	chr16:81388000-81400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:81390600-81396400	Weak transcription	Gastric	stomach
28	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:81391600-81396600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr16:81391800-81396400	Weak transcription	A549	lung
33	chr16:81391800-81397400	Weak transcription	NHDF-Ad	bronchial
34	chr16:81391800-81401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr16:81392000-81398600	Weak transcription	HSMMtube	muscle
36	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
38	chr16:81392400-81398800	Weak transcription	HUVEC	blood vessel
39	chr16:81392400-81408200	Strong transcription	Dnd41	blood
40	chr16:81392600-81400000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:81393000-81398600	Weak transcription	Hela-S3	cervix
42	chr16:81393200-81396800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:81393600-81400000	Strong transcription	Ovary	ovary
44	chr16:81393600-81402400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:81394000-81397400	Weak transcription	Fetal Lung	lung
46	chr16:81394000-81398600	Weak transcription	HSMM	muscle
47	chr16:81394400-81405600	Strong transcription	Fetal Stomach	stomach
48	chr16:81394400-81406400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr16:81394600-81396400	Strong transcription	Primary B cells from cord blood	blood
50	chr16:81394600-81399200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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