Variant report

Variant	rs73979047
Chromosome Location	chr17:16928143-16928144
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	chr17:16922760..16926151-chr17:16927403..16930298,5	K562	blood:
2	chr17:16922760..16925384-chr17:16927836..16930121,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1131632	0.83[AFR][1000 genomes]
rs55792503	0.85[AFR][1000 genomes]
rs56247606	0.85[AFR][1000 genomes]
rs58377774	0.89[AFR][1000 genomes]
rs58690840	0.81[AFR][1000 genomes]
rs60545734	0.89[AFR][1000 genomes]
rs60697210	0.89[AFR][1000 genomes]
rs61024568	0.89[AFR][1000 genomes]
rs7219836	0.89[AFR][1000 genomes]
rs73979046	0.83[AFR][1000 genomes]
rs73979056	0.83[AFR][1000 genomes]
rs73979063	0.89[AFR][1000 genomes]
rs73979080	0.89[AFR][1000 genomes]
rs73979088	0.88[AFR][1000 genomes]
rs73979096	0.85[AFR][1000 genomes]
rs73979097	0.85[AFR][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	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:16922800-16928800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:16923800-16928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:16923800-16929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:16923800-16929000	Weak transcription	NHEK	skin
6	chr17:16924200-16929000	Weak transcription	Lung	lung
7	chr17:16925000-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:16925200-16930600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:16925200-16931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:16925400-16928400	Weak transcription	Fetal Lung	lung
11	chr17:16925400-16929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:16925400-16930800	Weak transcription	NH-A	brain
13	chr17:16925400-16931000	Enhancers	A549	lung
14	chr17:16925600-16928200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:16925600-16930800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:16925600-16930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:16925600-16931800	Weak transcription	Osteobl	bone
18	chr17:16925800-16929400	Enhancers	Fetal Intestine Small	intestine
19	chr17:16925800-16930600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:16925800-16930800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:16926000-16928200	Weak transcription	Right Atrium	heart
22	chr17:16926000-16928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:16926000-16928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:16926000-16930600	Weak transcription	Esophagus	oesophagus
25	chr17:16926000-16930600	Weak transcription	HMEC	breast
26	chr17:16926000-16930800	Weak transcription	Colonic Mucosa	Colon
27	chr17:16926000-16930800	Weak transcription	Spleen	Spleen
28	chr17:16926000-16931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:16926200-16928200	Weak transcription	Gastric	stomach
30	chr17:16926200-16928200	Weak transcription	Left Ventricle	heart
31	chr17:16926200-16928200	Weak transcription	Stomach Mucosa	stomach
32	chr17:16926200-16928600	Weak transcription	HSMM	muscle
33	chr17:16926200-16930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:16926400-16928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:16926600-16928200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:16926600-16928400	Weak transcription	HSMMtube	muscle
37	chr17:16926600-16931400	Weak transcription	Brain Angular Gyrus	brain
38	chr17:16926600-16931400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr17:16926800-16928200	Weak transcription	Brain Hippocampus Middle	brain
40	chr17:16926800-16929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:16926800-16930800	Weak transcription	Brain Anterior Caudate	brain
42	chr17:16926800-16930800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr17:16926800-16931200	Weak transcription	Brain Substantia Nigra	brain
44	chr17:16927400-16928800	Weak transcription	Fetal Intestine Large	intestine
45	chr17:16927800-16929200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:16927800-16929400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr17:16927800-16929600	Enhancers	Fetal Heart	heart
48	chr17:16928000-16928400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:16928000-16928600	Enhancers	Adipose Nuclei	Adipose
50	chr17:16928000-16929000	Enhancers	Right Ventricle	heart

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