Variant report

Variant	rs548285254
Chromosome Location	chr17:67240632-67240633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv1055156	chr17:67239695-67272311	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
5	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
2	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:67230600-67241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr17:67230800-67253400	Weak transcription	Fetal Muscle Leg	muscle
7	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
8	chr17:67231600-67246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:67231800-67247000	Weak transcription	Primary T cells from cord blood	blood
10	chr17:67231800-67247000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr17:67231800-67247000	Weak transcription	HUVEC	blood vessel
12	chr17:67231800-67249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:67231800-67252600	Weak transcription	Fetal Thymus	thymus
14	chr17:67231800-67254400	Weak transcription	Lung	lung
15	chr17:67232600-67249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:67233600-67245000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:67234600-67249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr17:67234800-67250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr17:67236000-67283000	Weak transcription	Ovary	ovary
21	chr17:67236400-67252400	Weak transcription	Fetal Lung	lung
22	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:67236600-67241400	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:67236600-67241800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:67236600-67248600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:67236600-67251600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:67236800-67249000	Weak transcription	Brain Anterior Caudate	brain
28	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
29	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
30	chr17:67237200-67244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:67237200-67246400	Weak transcription	Aorta	Aorta
32	chr17:67237800-67241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:67237800-67241400	Weak transcription	NHEK	skin
34	chr17:67237800-67247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:67238200-67248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:67238600-67247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
38	chr17:67239200-67241800	Weak transcription	GM12878-XiMat	blood
39	chr17:67239200-67248400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:67239200-67262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:67239400-67252400	Weak transcription	HMEC	breast
42	chr17:67239600-67251000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:67240000-67244600	Weak transcription	Adipose Nuclei	Adipose
44	chr17:67240000-67244800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:67240000-67244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:67240000-67244800	Weak transcription	Fetal Intestine Large	intestine
47	chr17:67240000-67247400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr17:67240000-67248400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
50	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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