Variant report

Variant	rs247449
Chromosome Location	chr16:75489436-75489437
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75482835..75485909-chr16:75488077..75491215,3	MCF-7	breast:
2	chr16:75488552..75490455-chr16:75493804..75496037,3	MCF-7	breast:
3	chr16:75488273..75491906-chr16:75496881..75500144,3	K562	blood:
4	chr16:75478254..75480468-chr16:75487747..75489605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166822	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000261476	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs247451	0.81[EUR][1000 genomes]
rs37586	0.81[EUR][1000 genomes]
rs451589	0.82[EUR][1000 genomes]
rs72787179	0.81[EUR][1000 genomes]
rs72787185	0.84[EUR][1000 genomes]
rs72787193	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:75468800-75493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:75468800-75497000	Weak transcription	NHLF	lung
4	chr16:75469400-75491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:75469400-75497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:75469400-75497400	Weak transcription	Psoas Muscle	Psoas
7	chr16:75473600-75496000	Weak transcription	HMEC	breast
8	chr16:75477400-75494400	Weak transcription	NH-A	brain
9	chr16:75477800-75497000	Weak transcription	NHDF-Ad	bronchial
10	chr16:75479400-75493800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:75481000-75489600	Weak transcription	Colonic Mucosa	Colon
12	chr16:75481800-75497600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:75482400-75494200	Weak transcription	GM12878-XiMat	blood
14	chr16:75483200-75495800	Weak transcription	Fetal Brain Male	brain
15	chr16:75483600-75494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:75483800-75496000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:75484000-75490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:75484000-75496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:75484000-75496800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:75484600-75489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:75485000-75494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:75485200-75490000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:75485200-75493200	Weak transcription	Esophagus	oesophagus
24	chr16:75485400-75493200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:75485400-75496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:75485600-75489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:75485600-75491000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:75485600-75491000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:75485600-75491200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr16:75485600-75493800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:75485600-75494200	Weak transcription	Brain Germinal Matrix	brain
32	chr16:75485600-75495800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:75485600-75496400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr16:75485600-75497200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:75485800-75489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:75485800-75489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:75485800-75489800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:75485800-75489800	Weak transcription	Brain Angular Gyrus	brain
39	chr16:75485800-75490000	Weak transcription	Placenta	Placenta
40	chr16:75485800-75490800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr16:75485800-75491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:75485800-75492000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:75485800-75492000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:75485800-75493000	Weak transcription	NHEK	skin
45	chr16:75485800-75493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:75485800-75493200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:75485800-75493600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:75485800-75493800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr16:75485800-75493800	Weak transcription	A549	lung
50	chr16:75485800-75493800	Weak transcription	HSMM	muscle

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