Variant report

Variant	rs192147618
Chromosome Location	chr16:75466482-75466483
allele	A/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	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
2	chr16:75440851..75444308-chr16:75465493..75468084,3	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75466440..75468341-chr16:75498328..75499164,5	MCF-7	breast:
5	chr16:75465449..75469390-chr16:75587663..75590801,6	K562	blood:
6	chr16:75466173..75469509-chr16:75680461..75683235,3	K562	blood:
7	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
8	chr16:75466075..75467662-chr16:75587828..75590094,2	MCF-7	breast:
9	chr16:75466031..75468931-chr16:75549812..75551653,2	K562	blood:
10	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
11	chr16:75465566..75468619-chr16:75548282..75552307,4	MCF-7	breast:
12	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205084	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000252122	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000166822	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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	esv32560	chr16:75465765-75471455	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75432400-75466600	Weak transcription	Aorta	Aorta
2	chr16:75453800-75466600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:75464400-75466600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:75465200-75466600	Weak transcription	Esophagus	oesophagus
5	chr16:75465400-75466600	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:75465400-75466600	Enhancers	Pancreas	Pancrea
7	chr16:75465400-75468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:75465600-75466600	Weak transcription	Lung	lung
9	chr16:75465600-75467000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:75465800-75466600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr16:75466000-75468600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:75466000-75468600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:75466000-75468600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:75466200-75466600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:75466200-75466600	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr16:75466200-75466600	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr16:75466200-75466600	Enhancers	Small Intestine	intestine
18	chr16:75466200-75466800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr16:75466200-75466800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr16:75466200-75466800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:75466200-75466800	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr16:75466200-75466800	Flanking Active TSS	HepG2	liver
23	chr16:75466200-75467000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:75466200-75467000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:75466200-75467000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr16:75466200-75467000	Flanking Active TSS	Dnd41	blood
27	chr16:75466200-75467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:75466200-75467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:75466200-75467200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr16:75466200-75468000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:75466200-75468000	Active TSS	NHEK	skin
32	chr16:75466200-75468200	Active TSS	Brain Germinal Matrix	brain
33	chr16:75466200-75468200	Active TSS	HMEC	breast
34	chr16:75466200-75468400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr16:75466200-75468400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:75466200-75468400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:75466200-75468600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:75466200-75468600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr16:75466200-75468600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:75466200-75468800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:75466200-75468800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr16:75466200-75468800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr16:75466200-75468800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr16:75466400-75466600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:75466400-75466600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:75466400-75466600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:75466400-75466600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr16:75466400-75466600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr16:75466400-75466600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr16:75466400-75466600	Active TSS	Placenta	Placenta

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