Variant report

Variant	rs375929872
Chromosome Location	chr17:45222412-45222413
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45215729..45220383-chr17:45221997..45225323,4	MCF-7	breast:
2	chr17:45201078..45204476-chr17:45221979..45225273,3	K562	blood:
3	chr17:45221635..45223977-chr17:45273349..45275137,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3391514	chr17:45219677-45229261	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv8272	chr17:45219757-45232073	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3323498	chr17:45221212-45229280	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3325465	chr17:45221246-45229257	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3402949	chr17:45221263-45232118	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3334172	chr17:45221292-45232146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 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	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45216400-45232600	Strong transcription	Osteobl	bone
8	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
9	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45220000-45232800	Strong transcription	A549	lung
12	chr17:45221000-45222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45221400-45222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:45221400-45222600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:45221400-45222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:45221400-45222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:45221400-45222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:45221400-45222600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:45221400-45222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:45221400-45222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:45221400-45222600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:45221400-45222600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:45221400-45222600	Weak transcription	Fetal Intestine Large	intestine
24	chr17:45221400-45222600	Weak transcription	Placenta	Placenta
25	chr17:45221400-45222600	Weak transcription	Left Ventricle	heart
26	chr17:45221400-45222600	Weak transcription	Lung	lung
27	chr17:45221400-45222600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:45221400-45222600	Weak transcription	Thymus	Thymus
29	chr17:45221400-45222800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr17:45221400-45222800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:45221400-45222800	Weak transcription	Ovary	ovary
32	chr17:45221400-45223000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:45221400-45223000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr17:45221400-45223000	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:45221400-45223000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr17:45221400-45223200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:45221400-45223400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:45221400-45223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:45221400-45223600	Weak transcription	Hela-S3	cervix
40	chr17:45221400-45224200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:45221400-45224400	Strong transcription	Primary B cells from cord blood	blood
42	chr17:45221400-45225000	Weak transcription	Right Atrium	heart
43	chr17:45221400-45225400	Weak transcription	Psoas Muscle	Psoas
44	chr17:45221400-45225600	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:45221400-45225800	Weak transcription	NHEK	skin
46	chr17:45221400-45227400	Weak transcription	Brain Substantia Nigra	brain
47	chr17:45221400-45227600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:45221400-45227600	Weak transcription	Brain Anterior Caudate	brain
49	chr17:45221400-45227800	Weak transcription	Brain Angular Gyrus	brain
50	chr17:45221400-45228000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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