Variant report

Variant	rs557863521
Chromosome Location	chr17:45420268-45420269
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	chr17:45399518..45402231-chr17:45418878..45421613,2	K562	blood:

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402000-45428600	Weak transcription	Spleen	Spleen
2	chr17:45402000-45442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45402200-45420400	Weak transcription	Pancreas	Pancrea
4	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
6	chr17:45402400-45421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:45402400-45421400	Weak transcription	Fetal Kidney	kidney
8	chr17:45402400-45421600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:45402400-45423400	Weak transcription	NHDF-Ad	bronchial
10	chr17:45402400-45424200	Weak transcription	Fetal Brain Male	brain
11	chr17:45402400-45427200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:45402400-45428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:45402400-45433600	Weak transcription	Fetal Heart	heart
14	chr17:45402400-45433600	Weak transcription	Fetal Intestine Small	intestine
15	chr17:45402400-45433600	Weak transcription	Fetal Stomach	stomach
16	chr17:45402400-45435800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:45402400-45436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45402600-45422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:45402600-45423000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:45402600-45423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:45402600-45424600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:45402600-45428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:45402800-45422400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr17:45402800-45440800	Weak transcription	Primary T cells from cord blood	blood
25	chr17:45403000-45429400	Weak transcription	Placenta	Placenta
26	chr17:45407600-45435800	Weak transcription	Fetal Intestine Large	intestine
27	chr17:45408200-45421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:45409200-45425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:45411200-45424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
31	chr17:45412400-45463400	Weak transcription	Gastric	stomach
32	chr17:45413400-45421600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:45413400-45423800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:45413400-45463800	Weak transcription	Ovary	ovary
35	chr17:45415200-45421600	Weak transcription	Adipose Nuclei	Adipose
36	chr17:45415400-45421600	Weak transcription	Primary B cells from cord blood	blood
37	chr17:45417000-45423000	Weak transcription	Lung	lung
38	chr17:45418000-45420600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:45418600-45425000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:45419200-45423200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45419400-45420400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:45419600-45422000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr17:45419600-45423000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:45419600-45425000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:45420000-45422800	Weak transcription	Fetal Lung	lung
46	chr17:45420000-45424600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:45420200-45422400	Weak transcription	Liver	Liver

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