Variant report

Variant	rs55857671
Chromosome Location	chr18:12477663-12477664
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	chr18:12477211..12478856-chr18:12483815..12485642,2	K562	blood:
2	chr18:12476285..12479022-chr18:12480958..12482478,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11875046	1.00[ASN][1000 genomes]
rs11875489	1.00[ASN][1000 genomes]
rs11875516	1.00[ASN][1000 genomes]
rs11877349	1.00[ASN][1000 genomes]
rs12185471	1.00[ASN][1000 genomes]
rs45460897	1.00[ASN][1000 genomes]
rs55914043	1.00[ASN][1000 genomes]
rs56132337	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56152190	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271712	1.00[ASN][1000 genomes]
rs56297932	1.00[ASN][1000 genomes]
rs56371539	1.00[ASN][1000 genomes]
rs56382499	1.00[ASN][1000 genomes]
rs56392324	1.00[ASN][1000 genomes]
rs56792052	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56909423	1.00[ASN][1000 genomes]
rs58011896	1.00[ASN][1000 genomes]
rs61470666	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243917	1.00[ASN][1000 genomes]
rs7244345	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:12449800-12478000	Weak transcription	Gastric	stomach
4	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:12450000-12478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
8	chr18:12459600-12478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12460200-12478200	Weak transcription	NH-A	brain
10	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:12460400-12478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:12461200-12478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:12461800-12478200	Weak transcription	HepG2	liver
16	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
19	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
20	chr18:12465400-12478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
22	chr18:12466000-12477800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:12471000-12477800	Weak transcription	Pancreas	Pancrea
24	chr18:12471000-12477800	Weak transcription	Right Ventricle	heart
25	chr18:12471000-12478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:12471200-12478200	Weak transcription	Fetal Brain Male	brain
27	chr18:12471400-12478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:12471400-12478200	Weak transcription	Fetal Heart	heart
29	chr18:12471800-12478200	Weak transcription	NHEK	skin
30	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
31	chr18:12474200-12480600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:12475200-12480400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr18:12475400-12478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:12475600-12478800	Strong transcription	Brain Hippocampus Middle	brain
35	chr18:12476000-12478200	Weak transcription	HUVEC	blood vessel
36	chr18:12476600-12479200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:12476800-12479200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr18:12476800-12480200	Strong transcription	Ovary	ovary
39	chr18:12476800-12480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12476800-12480600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:12477000-12478200	Strong transcription	Esophagus	oesophagus
42	chr18:12477000-12478400	Enhancers	Fetal Thymus	thymus
43	chr18:12477000-12478800	Strong transcription	Fetal Lung	lung
44	chr18:12477000-12478800	Strong transcription	Placenta	Placenta
45	chr18:12477000-12478800	Strong transcription	Left Ventricle	heart
46	chr18:12477000-12479800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:12477000-12480000	Strong transcription	Brain Substantia Nigra	brain
48	chr18:12477000-12480600	Strong transcription	Adipose Nuclei	Adipose
49	chr18:12477000-12481000	Strong transcription	HSMM	muscle
50	chr18:12477000-12481200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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