Variant report

Variant	rs17415484
Chromosome Location	chr1:47094490-47094491
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	chr1:47093097..47096139-chr1:47100393..47103970,3	K562	blood:
2	chr1:47086033..47090385-chr1:47091411..47095597,5	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17102361	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17415726	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083000-47094600	Weak transcription	Right Ventricle	heart
2	chr1:47083000-47097200	Weak transcription	Gastric	stomach
3	chr1:47083000-47100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:47083200-47094600	Weak transcription	Liver	Liver
5	chr1:47083200-47095400	Weak transcription	Fetal Thymus	thymus
6	chr1:47083200-47095600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:47083200-47097200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:47083200-47097200	Weak transcription	Aorta	Aorta
9	chr1:47083200-47097200	Weak transcription	Thymus	Thymus
10	chr1:47083200-47100200	Weak transcription	Psoas Muscle	Psoas
11	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
12	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:47083400-47094600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:47083400-47094800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:47083400-47095000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:47083400-47095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:47083400-47095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:47083400-47095600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:47083400-47095600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:47083400-47096800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:47083400-47097000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:47083400-47097400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:47084800-47094600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:47084800-47097000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:47085600-47099000	Weak transcription	GM12878-XiMat	blood
27	chr1:47085800-47097200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:47085800-47097600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:47087800-47097000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:47088000-47098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:47088000-47100800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:47088200-47095000	Weak transcription	HSMM	muscle
33	chr1:47088200-47097000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:47088200-47097200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:47088200-47097200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:47088200-47097200	Weak transcription	NH-A	brain
37	chr1:47088200-47097400	Weak transcription	Osteobl	bone
38	chr1:47088200-47097800	Weak transcription	HSMMtube	muscle
39	chr1:47088200-47097800	Weak transcription	NHDF-Ad	bronchial
40	chr1:47088200-47098000	Weak transcription	Colonic Mucosa	Colon
41	chr1:47088200-47100000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:47088200-47100000	Weak transcription	Spleen	Spleen
43	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:47088400-47094600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:47088400-47095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:47088400-47097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:47088400-47097400	Weak transcription	NHEK	skin
48	chr1:47088400-47098000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:47088400-47098000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--

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