Variant report

Variant	rs72798665
Chromosome Location	chr16:74987957-74987958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74987615..74990128-chr16:75000664..75002313,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72798662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798664	1.00[EUR][1000 genomes]
rs72798696	1.00[AMR][1000 genomes]
rs72800338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74956200-74988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:74957000-74991600	Weak transcription	Stomach Mucosa	stomach
4	chr16:74960800-74995200	Strong transcription	Fetal Intestine Small	intestine
5	chr16:74960800-74995200	Strong transcription	Fetal Stomach	stomach
6	chr16:74961400-74991600	Strong transcription	Liver	Liver
7	chr16:74962200-74993200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:74964000-74988600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:74967800-74991000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:74968400-75000200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:74970200-74991800	Strong transcription	Fetal Thymus	thymus
12	chr16:74970800-74993400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr16:74970800-74999600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:74971600-74993600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:74972000-74995200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:74973800-74990800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:74974200-74993600	Strong transcription	Placenta	Placenta
18	chr16:74974800-74995200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:74975600-74988200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:74976200-74998600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:74976200-75012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:74976600-74988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:74976800-74991000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:74977600-74992000	Strong transcription	Fetal Muscle Leg	muscle
25	chr16:74977600-75016400	Weak transcription	Fetal Heart	heart
26	chr16:74977800-74995800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:74978000-74988000	Weak transcription	Fetal Brain Male	brain
28	chr16:74978000-74997600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:74982000-74989000	Weak transcription	Psoas Muscle	Psoas
30	chr16:74982400-74990000	Weak transcription	NH-A	brain
31	chr16:74982600-74995200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:74982600-75010400	Weak transcription	Small Intestine	intestine
33	chr16:74982600-75018200	Weak transcription	HUVEC	blood vessel
34	chr16:74983600-74988600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:74984600-74995200	Strong transcription	HepG2	liver
36	chr16:74984800-74988000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:74984800-74990200	Weak transcription	Osteobl	bone
38	chr16:74985200-74988400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:74985400-74988600	Weak transcription	Ovary	ovary
40	chr16:74985400-75016600	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:74985400-75018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:74985400-75018200	Weak transcription	Colonic Mucosa	Colon
43	chr16:74985600-74988200	Weak transcription	Brain Hippocampus Middle	brain
44	chr16:74985600-74988400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:74985600-74988400	Weak transcription	Brain Substantia Nigra	brain
46	chr16:74985600-74988400	Weak transcription	Fetal Brain Female	brain
47	chr16:74985600-75017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:74985800-74988000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:74985800-74988000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr16:74985800-74988000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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