Variant report

Variant	rs545239444
Chromosome Location	chr17:66888657-66888658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66885468..66888812-chr17:66889250..66894989,5	K562	blood:
2	chr17:66881632..66883175-chr17:66886048..66888951,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv908695	chr17:66865583-66904001	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1061151	chr17:66881617-66973917	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv908696	chr17:66885526-66903293	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv908697	chr17:66885526-66913936	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv908698	chr17:66885526-66915598	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv908699	chr17:66885526-66933003	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv908700	chr17:66885526-66985992	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv908701	chr17:66888346-66978319	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66869200-66903400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:66877000-66889000	Weak transcription	Spleen	Spleen
3	chr17:66877000-66906200	Weak transcription	Fetal Stomach	stomach
4	chr17:66877600-66893400	Weak transcription	Brain Anterior Caudate	brain
5	chr17:66877800-66918200	Weak transcription	Fetal Brain Male	brain
6	chr17:66878200-66889400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:66878200-66899200	Weak transcription	Osteobl	bone
8	chr17:66878400-66901000	Weak transcription	Brain Angular Gyrus	brain
9	chr17:66879800-66892600	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:66879800-66897000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:66880000-66893400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:66881000-66903200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:66881200-66893400	Weak transcription	Brain Substantia Nigra	brain
14	chr17:66881200-66904200	Weak transcription	Psoas Muscle	Psoas
15	chr17:66881400-66892800	Weak transcription	Fetal Heart	heart
16	chr17:66881400-66893600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr17:66881400-66893800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:66881400-66898800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:66881400-66906400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:66881400-66906400	Weak transcription	Right Ventricle	heart
21	chr17:66881600-66893000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:66882000-66897600	Weak transcription	Left Ventricle	heart
23	chr17:66882800-66890800	Strong transcription	Fetal Lung	lung
24	chr17:66883400-66890200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:66883400-66891800	Weak transcription	Aorta	Aorta
26	chr17:66883800-66894000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:66887200-66889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:66888000-66889600	Strong transcription	Adipose Nuclei	Adipose
29	chr17:66888400-66888800	Genic enhancers	Liver	Liver
30	chr17:66888400-66889200	Strong transcription	Ovary	ovary
31	chr17:66888600-66889800	Enhancers	HUVEC	blood vessel

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