Variant report

Variant	rs538020384
Chromosome Location	chr17:17107418-17107419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17106584..17108304-chr17:17112310..17114870,2	K562	blood:
2	chr17:17083452..17086510-chr17:17107054..17109094,3	K562	blood:
3	chr17:17099063..17102775-chr17:17103264..17109484,6	K562	blood:
4	chr17:17103562..17107466-chr17:17107503..17109938,5	MCF-7	breast:
5	chr17:17104294..17107636-chr17:17108280..17111234,4	MCF-7	breast:
6	chr16:31722921..31725637-chr17:17104707..17107535,2	MCF-7	breast:
7	chr17:16890905..16892638-chr17:17106431..17108184,2	K562	blood:
8	chr17:17098202..17101244-chr17:17105252..17107774,3	MCF-7	breast:
9	chr17:17107370..17109135-chr17:17133343..17134970,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230969	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000197302	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3324366	chr17:17107227-17112025	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3451078	chr17:17107367-17107545	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17091800-17107600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:17093600-17108400	Weak transcription	Thymus	Thymus
3	chr17:17093800-17107600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:17095200-17108400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:17095400-17108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:17095600-17107600	Weak transcription	Osteobl	bone
7	chr17:17100800-17107600	Weak transcription	NHDF-Ad	bronchial
8	chr17:17101200-17107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:17103600-17108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:17104000-17107600	Strong transcription	Fetal Intestine Small	intestine
11	chr17:17104200-17108800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:17104200-17110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:17104400-17114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17104600-17108800	Enhancers	Left Ventricle	heart
15	chr17:17104800-17114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17105000-17107600	Weak transcription	Fetal Kidney	kidney
17	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17105600-17107600	Weak transcription	Fetal Lung	lung
19	chr17:17105600-17107600	Strong transcription	NHLF	lung
20	chr17:17105800-17107600	Weak transcription	HSMM	muscle
21	chr17:17106000-17108600	Enhancers	Right Ventricle	heart
22	chr17:17106200-17108400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:17106200-17109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:17106400-17107600	Enhancers	Brain Substantia Nigra	brain
25	chr17:17106400-17107800	Weak transcription	Primary T cells from cord blood	blood
26	chr17:17106400-17108000	Enhancers	Ovary	ovary
27	chr17:17106400-17108200	Enhancers	Liver	Liver
28	chr17:17106400-17108200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
29	chr17:17106400-17108800	Enhancers	Right Atrium	heart
30	chr17:17106400-17110400	Enhancers	Fetal Brain Male	brain
31	chr17:17106600-17107600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr17:17106600-17107800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr17:17106600-17108000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:17106600-17108000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:17106600-17108200	Enhancers	Brain Cingulate Gyrus	brain
36	chr17:17106600-17108400	Enhancers	Fetal Muscle Leg	muscle
37	chr17:17106600-17108600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr17:17106600-17108600	Enhancers	Spleen	Spleen
39	chr17:17106800-17107600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr17:17106800-17107600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:17106800-17107800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:17106800-17108000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:17106800-17108000	Weak transcription	Fetal Thymus	thymus
44	chr17:17106800-17108200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:17106800-17108200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:17106800-17108200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:17106800-17108200	Enhancers	Fetal Muscle Trunk	muscle
48	chr17:17106800-17108200	Genic enhancers	Fetal Stomach	stomach
49	chr17:17106800-17108400	Enhancers	Brain Hippocampus Middle	brain
50	chr17:17106800-17109000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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