Variant report

Variant	rs72638299
Chromosome Location	chr16:12740735-12740736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16953136	0.87[AMR][1000 genomes]
rs16960335	0.90[AMR][1000 genomes]
rs56162357	0.87[AMR][1000 genomes]
rs56303760	0.81[AMR][1000 genomes]
rs57964552	0.87[AMR][1000 genomes]
rs58082940	0.87[AMR][1000 genomes]
rs59010570	0.87[AMR][1000 genomes]
rs59214044	0.90[AMR][1000 genomes]
rs59581791	0.87[AMR][1000 genomes]
rs60414655	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61471449	0.87[AMR][1000 genomes]
rs72638291	0.84[AMR][1000 genomes]
rs72638292	0.84[AMR][1000 genomes]
rs72638293	0.90[AMR][1000 genomes]
rs72638294	0.87[AMR][1000 genomes]
rs72638295	0.87[AMR][1000 genomes]
rs72638296	0.87[AMR][1000 genomes]
rs72638300	0.90[AMR][1000 genomes]
rs72638301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs751148	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1041381	chr16:12724989-12751796	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12739800-12741600	Enhancers	Primary hematopoietic stem cells	blood
2	chr16:12739800-12741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr16:12739800-12742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:12740000-12740800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:12740000-12740800	Enhancers	NH-A	brain
6	chr16:12740000-12741000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:12740000-12741000	Enhancers	Placenta	Placenta
8	chr16:12740000-12741200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:12740000-12741200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:12740000-12741200	Enhancers	Brain Cingulate Gyrus	brain
11	chr16:12740000-12741200	Enhancers	HepG2	liver
12	chr16:12740000-12741400	Enhancers	Liver	Liver
13	chr16:12740000-12741600	Enhancers	Hela-S3	cervix
14	chr16:12740000-12741600	Enhancers	K562	blood
15	chr16:12740200-12740800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12740200-12740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:12740200-12741000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr16:12740200-12741000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:12740200-12741000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:12740200-12741000	Enhancers	GM12878-XiMat	blood
21	chr16:12740200-12741000	Flanking Active TSS	HUVEC	blood vessel
22	chr16:12740200-12741000	Enhancers	Osteobl	bone
23	chr16:12740200-12741200	Enhancers	Brain Hippocampus Middle	brain
24	chr16:12740200-12741800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:12740200-12741800	Enhancers	Brain Angular Gyrus	brain
26	chr16:12740200-12741800	Enhancers	Brain Substantia Nigra	brain
27	chr16:12740400-12740800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr16:12740400-12740800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:12740400-12741000	Enhancers	Primary T cells from cord blood	blood
30	chr16:12740400-12741000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr16:12740400-12741000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr16:12740400-12741000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:12740400-12741000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:12740400-12741000	Enhancers	Spleen	Spleen
35	chr16:12740400-12741000	Flanking Active TSS	A549	lung
36	chr16:12740400-12741200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr16:12740600-12740800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:12740600-12740800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:12740600-12741000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:12740600-12741000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:12740600-12741000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr16:12740600-12741000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr16:12740600-12741000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:12740600-12741000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12740600-12741000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr16:12740600-12741000	Enhancers	Fetal Thymus	thymus
47	chr16:12740600-12741000	Enhancers	Gastric	stomach
48	chr16:12740600-12741000	Enhancers	Left Ventricle	heart
49	chr16:12740600-12741000	Enhancers	Right Atrium	heart
50	chr16:12740600-12741000	Enhancers	Dnd41	blood

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