Variant report

Variant	rs9288017
Chromosome Location	chr2:179150235-179150236
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	chr2:179150083..179151979-chr2:179155800..179158067,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs101266	0.81[EUR][1000 genomes]
rs10203420	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680778	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692144	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12469658	0.87[EUR][1000 genomes]
rs12473780	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12474257	0.82[EUR][1000 genomes]
rs12476671	0.84[EUR][1000 genomes]
rs12693158	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12693160	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13024959	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13382421	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13400738	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13407992	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1434080	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865325	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs333997	0.81[EUR][1000 genomes]
rs334004	0.82[EUR][1000 genomes]
rs334009	0.80[EUR][1000 genomes]
rs334013	0.81[EUR][1000 genomes]
rs334014	0.81[EUR][1000 genomes]
rs334630	0.80[EUR][1000 genomes]
rs6716156	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6756651	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7587549	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599683	0.93[ASN][1000 genomes]
rs9288016	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9989738	0.84[EUR][1000 genomes]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143000-179160200	Weak transcription	Fetal Kidney	kidney
2	chr2:179143200-179160800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:179144200-179163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:179144400-179153000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:179144400-179154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179144600-179155000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:179145000-179159200	Weak transcription	Liver	Liver
9	chr2:179146600-179151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179147200-179151200	Weak transcription	Osteobl	bone
11	chr2:179147200-179151400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:179147400-179151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:179147400-179152000	Weak transcription	NH-A	brain
14	chr2:179147400-179153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:179147400-179162600	Weak transcription	HMEC	breast
16	chr2:179147400-179163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:179147400-179163000	Weak transcription	NHEK	skin
18	chr2:179147800-179162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:179148000-179152600	Weak transcription	Right Ventricle	heart
20	chr2:179149000-179150600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:179149400-179150800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:179149400-179151000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:179149600-179150800	Enhancers	HSMMtube	muscle
24	chr2:179149800-179152000	Weak transcription	HUVEC	blood vessel
25	chr2:179150000-179152000	Weak transcription	K562	blood
26	chr2:179150000-179152200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:179150200-179153000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:179150200-179160800	Weak transcription	Psoas Muscle	Psoas

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