Variant report

Variant	rs59099814
Chromosome Location	chr18:11785133-11785134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11783235..11786004-chr18:11789445..11791383,2	K562	blood:
2	chr18:11773035..11775049-chr18:11783906..11786264,2	MCF-7	breast:
3	chr18:11781104..11782741-chr18:11784482..11786783,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10468679	1.00[ASN][1000 genomes]
rs10468682	1.00[ASN][1000 genomes]
rs10502413	1.00[ASN][1000 genomes]
rs11872939	1.00[ASN][1000 genomes]
rs12373424	1.00[ASN][1000 genomes]
rs12457247	1.00[ASN][1000 genomes]
rs1424913	1.00[ASN][1000 genomes]
rs1559579	1.00[ASN][1000 genomes]
rs16976625	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976628	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976639	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976666	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976687	1.00[ASN][1000 genomes]
rs1834267	1.00[ASN][1000 genomes]
rs1941225	1.00[ASN][1000 genomes]
rs28666369	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688137	1.00[ASN][1000 genomes]
rs28696966	1.00[ASN][1000 genomes]
rs56314648	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56819096	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861220	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485078	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491632	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878458	1.00[ASN][1000 genomes]
rs57958293	1.00[ASN][1000 genomes]
rs58144032	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58248860	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58273499	1.00[ASN][1000 genomes]
rs58296571	1.00[ASN][1000 genomes]
rs58471713	1.00[ASN][1000 genomes]
rs58617475	1.00[ASN][1000 genomes]
rs58829911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991912	1.00[ASN][1000 genomes]
rs59286339	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59322585	1.00[ASN][1000 genomes]
rs59455765	1.00[ASN][1000 genomes]
rs59549445	1.00[ASN][1000 genomes]
rs59624432	1.00[ASN][1000 genomes]
rs59870994	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59893403	1.00[ASN][1000 genomes]
rs59920321	1.00[ASN][1000 genomes]
rs60036326	1.00[ASN][1000 genomes]
rs60590666	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61076914	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505675	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227117	1.00[ASN][1000 genomes]
rs7227259	1.00[ASN][1000 genomes]
rs73397831	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397852	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397857	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397859	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397874	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399817	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399822	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399842	1.00[ASN][1000 genomes]
rs73401824	1.00[ASN][1000 genomes]
rs73401826	1.00[ASN][1000 genomes]
rs73401832	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401844	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403525	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403531	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403540	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403565	1.00[ASN][1000 genomes]
rs73403569	1.00[ASN][1000 genomes]
rs73403571	1.00[ASN][1000 genomes]
rs73405491	1.00[ASN][1000 genomes]
rs73405493	1.00[ASN][1000 genomes]
rs73407408	1.00[ASN][1000 genomes]
rs73407416	1.00[ASN][1000 genomes]
rs73407420	1.00[ASN][1000 genomes]
rs73407440	1.00[ASN][1000 genomes]
rs787556	1.00[ASN][1000 genomes]
rs8085783	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089494	1.00[ASN][1000 genomes]
rs8095571	1.00[ASN][1000 genomes]
rs8095793	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098587	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099026	1.00[ASN][1000 genomes]
rs8099153	1.00[ASN][1000 genomes]
rs9303743	1.00[ASN][1000 genomes]
rs9303752	1.00[ASN][1000 genomes]
rs9646452	1.00[ASN][1000 genomes]
rs9675502	1.00[ASN][1000 genomes]
rs9675734	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675750	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676233	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946157	1.00[ASN][1000 genomes]
rs9946455	1.00[ASN][1000 genomes]
rs9948287	1.00[ASN][1000 genomes]
rs9954486	1.00[ASN][1000 genomes]
rs9960175	1.00[ASN][1000 genomes]
rs9962057	1.00[ASN][1000 genomes]
rs9963594	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967080	0.93[EUR][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
2	chr18:11767600-11785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:11767600-11789000	Weak transcription	Esophagus	oesophagus
4	chr18:11780200-11785400	Weak transcription	Ovary	ovary
5	chr18:11783000-11785400	Weak transcription	Brain Germinal Matrix	brain
6	chr18:11783000-11785600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:11783400-11785800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
9	chr18:11783800-11785400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:11783800-11785400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:11783800-11785600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:11783800-11785800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:11783800-11786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:11783800-11786400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr18:11783800-11786400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:11784000-11785600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:11784000-11785600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:11784000-11786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:11784200-11785600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:11784200-11786000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:11784400-11785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:11784400-11785400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:11784400-11785600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:11784600-11785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:11784800-11785200	Weak transcription	Fetal Brain Male	brain
26	chr18:11785000-11785600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:11785000-11785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr18:11785000-11786000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:11785000-11786200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:11785000-11786400	Enhancers	H9 Cell Line	embryonic stem cell

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