Variant report

Variant	rs560932408
Chromosome Location	chr16:75599526-75599527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr16:75599472-75601353	IMR90	lung:	n/a	n/a
2	EBF1	chr16:75598858-75600216	GM12878	blood:	n/a	chr16:75599187-75599198 chr16:75599188-75599198
3	POLR2A	chr16:75598853-75601082	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:75598877-75601063	GM18505	blood:	n/a	n/a
5	MTA3	chr16:75599472-75600031	GM12878	blood:	n/a	n/a
6	MXI1	chr16:75599501-75601315	IMR90	lung:	n/a	n/a
7	MTA3	chr16:75598752-75600658	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:75598850-75600955	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75550007..75552554-chr16:75597669..75600323,2	MCF-7	breast:
2	chr16:75598745..75600890-chr16:75655383..75657208,2	MCF-7	breast:
3	chr16:75587491..75591972-chr16:75596703..75602966,17	MCF-7	breast:
4	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
5	chr16:75496436..75498553-chr16:75596400..75601675,4	MCF-7	breast:
6	chr16:75598443..75600121-chr16:75680114..75683081,2	MCF-7	breast:
7	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
8	chr16:75593028..75596412-chr16:75596623..75599848,3	MCF-7	breast:
9	chr16:75466841..75469026-chr16:75598696..75600730,2	MCF-7	breast:
10	chr16:75596664..75600013-chr16:75654010..75656769,3	K562	blood:
11	chr16:75586208..75590870-chr16:75596068..75600585,8	K562	blood:
12	chr16:75587953..75591056-chr16:75597056..75601894,6	MCF-7	breast:
13	chr1:149858339..149860614-chr16:75599065..75602027,3	MCF-7	breast:

No data

Variant related genes	Relation type
GABARAPL2	TF binding region
ENSG00000205084	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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	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
6	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
7	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
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv3312533	chr16:75599276-75601824	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3312534	chr16:75599276-75601824	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75594200-75599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:75597800-75599600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr16:75597800-75599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr16:75598000-75599600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:75598200-75599600	Enhancers	Fetal Heart	heart
6	chr16:75598200-75599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:75598600-75599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:75598800-75599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:75598800-75599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:75598800-75599600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:75598800-75599600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr16:75598800-75599600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr16:75598800-75599600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr16:75598800-75599600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr16:75598800-75599600	Enhancers	Fetal Thymus	thymus
16	chr16:75598800-75599600	Enhancers	Stomach Mucosa	stomach
17	chr16:75598800-75599600	Flanking Active TSS	HepG2	liver
18	chr16:75598800-75599600	Enhancers	HSMM	muscle
19	chr16:75598800-75599600	Enhancers	HSMMtube	muscle
20	chr16:75598800-75599600	Enhancers	NHDF-Ad	bronchial
21	chr16:75598800-75599600	Enhancers	NHLF	lung
22	chr16:75598800-75600000	Flanking Active TSS	GM12878-XiMat	blood
23	chr16:75599000-75599600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:75599000-75599600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:75599000-75599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr16:75599000-75599600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr16:75599000-75599600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr16:75599000-75599600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:75599000-75599600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:75599000-75599600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:75599000-75599600	Enhancers	Brain Hippocampus Middle	brain
32	chr16:75599000-75599600	Enhancers	Esophagus	oesophagus
33	chr16:75599000-75599600	Enhancers	Fetal Muscle Leg	muscle
34	chr16:75599000-75599600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr16:75599000-75599600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr16:75599000-75599800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:75599000-75600000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr16:75599000-75600000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr16:75599000-75600000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:75599000-75600000	Flanking Active TSS	Hela-S3	cervix
41	chr16:75599000-75600000	Flanking Active TSS	NHEK	skin
42	chr16:75599000-75600400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:75599000-75600400	Active TSS	Thymus	Thymus
44	chr16:75599000-75600800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:75599000-75601000	Active TSS	Brain Anterior Caudate	brain
46	chr16:75599000-75601000	Active TSS	Brain Cingulate Gyrus	brain
47	chr16:75599000-75601400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr16:75599000-75601400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:75599200-75599600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:75599200-75599600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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