Variant report

Variant	rs147575209
Chromosome Location	chr17:17901234-17901235
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	chr17:17894578..17897548-chr17:17899295..17901518,2	K562	blood:
2	chr17:17890810..17892818-chr17:17898808..17902213,3	K562	blood:

Variant related genes	Relation type
ENSG00000171962	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3324863	chr17:17900927-17905625	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17876400-17903200	Weak transcription	Gastric	stomach
2	chr17:17876600-17914600	Weak transcription	Aorta	Aorta
3	chr17:17876800-17909400	Weak transcription	Brain Substantia Nigra	brain
4	chr17:17876800-17912000	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17881800-17908200	Weak transcription	Pancreas	Pancrea
6	chr17:17886800-17909400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:17886800-17913000	Weak transcription	Fetal Lung	lung
8	chr17:17889000-17907400	Weak transcription	Brain Anterior Caudate	brain
9	chr17:17890000-17907400	Weak transcription	Brain Germinal Matrix	brain
10	chr17:17892200-17908400	Weak transcription	Lung	lung
11	chr17:17892400-17910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:17892600-17909800	Weak transcription	Brain Angular Gyrus	brain
13	chr17:17892800-17908000	Weak transcription	Spleen	Spleen
14	chr17:17894000-17903400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr17:17894000-17920600	Weak transcription	Stomach Mucosa	stomach
16	chr17:17894600-17911400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:17895000-17903400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:17895200-17909600	Weak transcription	NHLF	lung
19	chr17:17898000-17909200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:17898000-17910800	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:17898200-17902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:17898200-17908200	Weak transcription	Right Ventricle	heart
23	chr17:17898200-17908400	Weak transcription	Fetal Brain Female	brain
24	chr17:17898200-17909000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:17898200-17918000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:17898200-17918000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:17898400-17902600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:17898400-17902800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:17898400-17903000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:17898400-17905600	Weak transcription	NHDF-Ad	bronchial
31	chr17:17898400-17907400	Weak transcription	Fetal Muscle Leg	muscle
32	chr17:17898400-17910000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:17898400-17911400	Weak transcription	HSMM	muscle
34	chr17:17898600-17902400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:17898600-17902600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr17:17898600-17902800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:17898600-17908400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:17898600-17909800	Weak transcription	Adipose Nuclei	Adipose
39	chr17:17898600-17909800	Weak transcription	Ovary	ovary
40	chr17:17898600-17910600	Weak transcription	Placenta	Placenta
41	chr17:17898600-17910800	Weak transcription	Esophagus	oesophagus
42	chr17:17898600-17917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:17898800-17908800	Weak transcription	NHEK	skin
44	chr17:17899000-17902400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:17899000-17904600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr17:17900200-17903400	Enhancers	Fetal Heart	heart
47	chr17:17900400-17902400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:17900600-17903400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:17900800-17901600	Enhancers	Left Ventricle	heart
50	chr17:17901200-17903000	Weak transcription	Fetal Intestine Small	intestine

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