Variant report

Variant	rs552148473
Chromosome Location	chr17:38255836-38255837
allele	A/G
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255224..38257824-chr17:38294998..38297075,3	MCF-7	breast:
2	chr17:38136802..38138623-chr17:38254176..38256364,2	K562	blood:
3	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
4	chr17:38225724..38230590-chr17:38252636..38256998,6	K562	blood:
5	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
6	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
7	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
8	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
9	chr17:38255428..38255966-chr6:43968719..43969479,2	Hela-S3	cervix:
10	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
11	chr17:38218447..38220778-chr17:38254476..38256846,3	K562	blood:
12	chr17:37822718..37824685-chr17:38254119..38256837,4	K562	blood:
13	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
14	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
15	chr17:38179137..38180988-chr17:38255359..38257668,2	MCF-7	breast:
16	chr17:38169185..38171597-chr17:38253858..38256821,3	K562	blood:
17	chr1:43854894..43855677-chr17:38255405..38256315,2	Hela-S3	cervix:
18	chr17:38255479..38257597-chr17:38472863..38476032,4	MCF-7	breast:
19	chr17:38209724..38212564-chr17:38253281..38256740,3	K562	blood:
20	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:
21	chr17:37822718..37824669-chr17:38254202..38256837,3	K562	blood:
22	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:
23	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159479	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000198198	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000126351	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 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	chr17:38254200-38257400	Active TSS	Ovary	ovary
2	chr17:38254200-38257600	Flanking Active TSS	Dnd41	blood
3	chr17:38254200-38257800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr17:38254400-38257400	Flanking Active TSS	Fetal Thymus	thymus
5	chr17:38254400-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:38254600-38257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr17:38254600-38257600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr17:38254600-38257600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr17:38254600-38257600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr17:38254800-38256800	Flanking Active TSS	Thymus	Thymus
11	chr17:38254800-38257200	Active TSS	Right Ventricle	heart
12	chr17:38254800-38257400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr17:38254800-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:38254800-38257800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:38255000-38256000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr17:38255000-38256000	Flanking Active TSS	Fetal Stomach	stomach
17	chr17:38255000-38256800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:38255000-38256800	Flanking Active TSS	Placenta	Placenta
19	chr17:38255000-38257200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr17:38255000-38257200	Active TSS	Brain Cingulate Gyrus	brain
21	chr17:38255000-38257200	Active TSS	Placenta Amnion	Placenta Amnion
22	chr17:38255000-38257600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:38255000-38257600	Active TSS	Psoas Muscle	Psoas
24	chr17:38255000-38257800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr17:38255200-38256000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr17:38255200-38256000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr17:38255200-38256000	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr17:38255200-38256200	Active TSS	Brain Anterior Caudate	brain
29	chr17:38255200-38256200	Active TSS	Fetal Kidney	kidney
30	chr17:38255200-38256400	Active TSS	Liver	Liver
31	chr17:38255200-38257000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:38255200-38257000	Active TSS	Stomach Mucosa	stomach
33	chr17:38255200-38257000	Active TSS	HSMMtube	muscle
34	chr17:38255200-38257200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:38255200-38257200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:38255200-38257200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:38255200-38257200	Active TSS	Brain Angular Gyrus	brain
38	chr17:38255200-38257200	Active TSS	Brain Hippocampus Middle	brain
39	chr17:38255200-38257200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr17:38255200-38257200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:38255200-38257200	Active TSS	Brain Substantia Nigra	brain
42	chr17:38255200-38257200	Active TSS	Colon Smooth Muscle	Colon
43	chr17:38255200-38257200	Active TSS	Duodenum Mucosa	Duodenum
44	chr17:38255200-38257200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr17:38255200-38257200	Active TSS	Rectal Smooth Muscle	rectum
46	chr17:38255200-38257200	Active TSS	Right Atrium	heart
47	chr17:38255200-38257200	Active TSS	Hela-S3	cervix
48	chr17:38255200-38257200	Active TSS	HMEC	breast
49	chr17:38255200-38257200	Active TSS	NHEK	skin
50	chr17:38255200-38257200	Active TSS	NHLF	lung

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