Variant report

Variant	rs539224793
Chromosome Location	chr17:45144345-45144346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45143352..45146051-chr17:45399301..45401762,3	K562	blood:
2	chr17:45143352..45144907-chr17:45399301..45401186,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv1851648	chr17:45091619-45146146	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv1846431	chr17:45092987-45145946	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	esv9886	chr17:45142849-45153796	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45128800-45144600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45131800-45144600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45132000-45144600	Weak transcription	Spleen	Spleen
4	chr17:45134000-45144600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:45134200-45144600	Weak transcription	Gastric	stomach
6	chr17:45142200-45144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:45142200-45144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:45143600-45144400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:45143600-45144400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:45143600-45144400	Flanking Active TSS	Dnd41	blood
11	chr17:45143600-45144400	Flanking Active TSS	Osteobl	bone
12	chr17:45143600-45144600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:45143600-45144600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:45143600-45144600	Active TSS	Right Atrium	heart
15	chr17:45143600-45145000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45143600-45145000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:45143600-45145000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:45143600-45145000	Active TSS	Lung	lung
19	chr17:45143600-45145000	Active TSS	HSMM	muscle
20	chr17:45143800-45144400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:45143800-45144400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:45143800-45144400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:45143800-45144400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:45143800-45144400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:45143800-45144400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:45143800-45144400	Flanking Active TSS	A549	lung
27	chr17:45143800-45144600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr17:45143800-45145000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:45143800-45145000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr17:45143800-45145200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:45143800-45145200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:45143800-45145200	Active TSS	NHEK	skin
33	chr17:45144000-45144400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr17:45144000-45144400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr17:45144000-45144400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr17:45144000-45144400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:45144000-45144400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45144000-45144400	Flanking Active TSS	Fetal Lung	lung
39	chr17:45144000-45144400	Flanking Active TSS	Hela-S3	cervix
40	chr17:45144000-45144400	Flanking Active TSS	HMEC	breast
41	chr17:45144000-45144600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr17:45144000-45144600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:45144000-45144600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:45144000-45144600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr17:45144000-45144600	Flanking Active TSS	HUVEC	blood vessel
46	chr17:45144000-45144600	Flanking Active TSS	NH-A	brain
47	chr17:45144000-45145000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:45144000-45145000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:45144000-45145000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr17:45144000-45145000	Active TSS	Brain Substantia Nigra	brain

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