Variant report

Variant	rs12473780
Chromosome Location	chr2:179162589-179162590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179160192..179162913-chr2:179163349..179165346,2	K562	blood:
2	chr2:179159947..179162913-chr2:179163098..179164849,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10203141	0.82[EUR][1000 genomes]
rs10203420	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11680778	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11692144	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12469658	0.85[EUR][1000 genomes]
rs12474257	0.80[EUR][1000 genomes]
rs12476671	0.82[EUR][1000 genomes]
rs12693158	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12693160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13024959	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13382421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13400738	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13407992	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1368906	0.81[EUR][1000 genomes]
rs1434080	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1865325	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55799649	0.80[EUR][1000 genomes]
rs6716156	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6756651	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7587549	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9288016	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9288017	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9989738	0.82[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179144200-179163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:179147400-179162600	Weak transcription	HMEC	breast
4	chr2:179147400-179163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:179147400-179163000	Weak transcription	NHEK	skin
6	chr2:179147800-179162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:179153200-179162800	Weak transcription	HUVEC	blood vessel
8	chr2:179154800-179163000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:179155600-179162600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:179155600-179174200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:179157600-179163600	Weak transcription	K562	blood
12	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:179160600-179164000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:179160800-179165600	Enhancers	Hela-S3	cervix
15	chr2:179161000-179163200	Weak transcription	Psoas Muscle	Psoas
16	chr2:179161600-179163200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:179161600-179173600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:179161800-179163400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:179162000-179163000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:179162000-179174200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:179162200-179163400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:179162400-179179800	Weak transcription	Liver	Liver

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