Variant report

Variant	rs11385686
Chromosome Location	chr16:70295584-70295585
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70291133-70296627	K562	blood:	n/a	n/a
2	POLR2A	chr16:70295253-70296741	K562	blood:	n/a	n/a
3	POLR2A	chr16:70295538-70295855	K562	blood:	n/a	n/a
4	POLR2A	chr16:70295520-70296592	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70294294..70298794-chr16:70322473..70325438,5	K562	blood:
2	chr16:70289607..70292133-chr16:70294399..70296024,2	K562	blood:
3	chr16:70294294..70296444-chr16:70323407..70325438,2	K562	blood:

Variant related genes	Relation type
AARS	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000090861	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	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
4	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
5	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
6	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
8	chr16:70286000-70316400	Strong transcription	Liver	Liver
9	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
10	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:70286000-70320400	Strong transcription	Osteobl	bone
17	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:70286200-70296600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70286200-70299800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:70286200-70300000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr16:70286200-70300000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr16:70286200-70300000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:70286200-70300000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:70286200-70300000	Strong transcription	Brain Substantia Nigra	brain
26	chr16:70286200-70300000	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr16:70286200-70300000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr16:70286200-70300000	Strong transcription	NHDF-Ad	bronchial
29	chr16:70286200-70303400	Strong transcription	Lung	lung
30	chr16:70286200-70304600	Strong transcription	A549	lung
31	chr16:70286200-70305800	Strong transcription	Gastric	stomach
32	chr16:70286200-70306000	Strong transcription	Brain Hippocampus Middle	brain
33	chr16:70286200-70306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:70286200-70306800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:70286200-70306800	Strong transcription	Right Ventricle	heart
36	chr16:70286200-70306800	Strong transcription	NHLF	lung
37	chr16:70286200-70307400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:70286200-70307400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr16:70286200-70307400	Strong transcription	Brain Cingulate Gyrus	brain
40	chr16:70286200-70307600	Strong transcription	Brain Angular Gyrus	brain
41	chr16:70286200-70311000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr16:70286200-70317200	Strong transcription	Placenta	Placenta
44	chr16:70286200-70317400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:70286200-70317400	Strong transcription	Fetal Thymus	thymus
46	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell

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