Variant report

Variant	rs528396718
Chromosome Location	chr17:15368262-15368263
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15367748..15369462-chr17:15373391..15375933,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak 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 target site	33 gene(s)	inside rSNPs	diseases
9	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv3392219	chr17:15366827-15370125	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3441277	chr17:15367127-15370125	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2346287	chr17:15368212-15368826	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15341400-15368400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:15341400-15375800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:15349400-15368800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:15356800-15378000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:15357800-15375800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
8	chr17:15359400-15386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:15359600-15383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:15360200-15369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:15361200-15387800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:15361400-15385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:15361600-15373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:15361800-15369600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:15361800-15382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:15362400-15369200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:15366000-15368400	Enhancers	Brain Anterior Caudate	brain
18	chr17:15366000-15368600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:15366000-15368600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:15366000-15368600	Enhancers	HSMMtube	muscle
21	chr17:15366000-15368600	Enhancers	NHDF-Ad	bronchial
22	chr17:15366000-15368600	Enhancers	NHLF	lung
23	chr17:15366000-15368800	Enhancers	Colon Smooth Muscle	Colon
24	chr17:15366000-15368800	Enhancers	HSMM	muscle
25	chr17:15366000-15369200	Enhancers	Brain Angular Gyrus	brain
26	chr17:15366000-15369200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr17:15366000-15369600	Enhancers	Fetal Muscle Leg	muscle
28	chr17:15366000-15369800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:15366200-15368600	Enhancers	Right Atrium	heart
30	chr17:15366200-15370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:15366400-15368400	Enhancers	HUVEC	blood vessel
32	chr17:15366400-15368600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:15366400-15368600	Enhancers	Adipose Nuclei	Adipose
34	chr17:15366400-15368600	Enhancers	Left Ventricle	heart
35	chr17:15366400-15368600	Enhancers	Pancreas	Pancrea
36	chr17:15366400-15368800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:15366400-15368800	Enhancers	Right Ventricle	heart
38	chr17:15366400-15369000	Enhancers	Brain Cingulate Gyrus	brain
39	chr17:15366400-15369000	Enhancers	Brain Germinal Matrix	brain
40	chr17:15366400-15369000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr17:15366400-15369400	Enhancers	Lung	lung
42	chr17:15366400-15369800	Enhancers	Fetal Muscle Trunk	muscle
43	chr17:15366800-15368600	Enhancers	Brain Hippocampus Middle	brain
44	chr17:15366800-15368600	Enhancers	Fetal Brain Female	brain
45	chr17:15366800-15368800	Enhancers	Brain Substantia Nigra	brain
46	chr17:15366800-15369200	Enhancers	Esophagus	oesophagus
47	chr17:15366800-15369600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr17:15367000-15368600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:15367200-15368400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15367200-15371000	Weak transcription	Rectal Mucosa Donor 31	rectum

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