Variant report

Variant	rs16976625
Chromosome Location	chr18:11742224-11742225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr18:11742137-11742295	HepG2	liver:	n/a	chr18:11742244-11742259
2	MAFK	chr18:11742194-11742302	HepG2	liver:	n/a	chr18:11742244-11742259

No.	Distal block	Cell Line	Cell type
1	chr18:11740510..11743051-chr18:11858756..11861303,2	K562	blood:
2	chr18:11707724..11709378-chr18:11741039..11743864,2	K562	blood:
3	chr18:11741098..11743406-chr18:12048989..12050837,2	K562	blood:
4	chr18:11687823..11690505-chr18:11739592..11742363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267333	TF binding region
ENSG00000141404	Chromatin interaction
ENSG00000267292	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

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[CEU][hapmap];1.00[ASN][1000 genomes]
rs16976628	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976639	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976666	1.00[CEU][hapmap];0.86[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]
rs2855642	1.00[CEU][hapmap]
rs28666369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688137	1.00[ASN][1000 genomes]
rs28696966	1.00[ASN][1000 genomes]
rs3888795	1.00[CEU][hapmap]
rs56314648	1.00[ASN][1000 genomes]
rs56819096	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861220	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485078	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491632	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57878458	1.00[ASN][1000 genomes]
rs57958293	1.00[ASN][1000 genomes]
rs58144032	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58248860	0.86[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	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991912	1.00[ASN][1000 genomes]
rs59099814	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59286339	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59455765	1.00[ASN][1000 genomes]
rs59549445	1.00[ASN][1000 genomes]
rs59624432	1.00[ASN][1000 genomes]
rs59870994	0.93[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61076914	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505675	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227117	1.00[ASN][1000 genomes]
rs7227259	1.00[ASN][1000 genomes]
rs73397831	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399817	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399822	0.87[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	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401844	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403525	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403531	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403540	0.86[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	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089494	1.00[ASN][1000 genomes]
rs8095571	1.00[ASN][1000 genomes]
rs8095793	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098587	0.87[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[CEU][hapmap];1.00[ASN][1000 genomes]
rs9675502	1.00[ASN][1000 genomes]
rs9675734	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675736	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9675750	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676233	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676238	0.93[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[CEU][hapmap];1.00[ASN][1000 genomes]
rs9960175	1.00[ASN][1000 genomes]
rs9962057	1.00[ASN][1000 genomes]
rs9963594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967080	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11738400-11742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11740000-11744800	Enhancers	Fetal Brain Male	brain
3	chr18:11740600-11742600	Weak transcription	Fetal Brain Female	brain
4	chr18:11740800-11742600	Weak transcription	Brain Anterior Caudate	brain
5	chr18:11740800-11742600	Weak transcription	Right Ventricle	heart
6	chr18:11741600-11743200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:11742000-11742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:11742000-11742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:11742200-11743000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:11742200-11743000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:11742200-11743200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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