Variant report

Variant	rs457914
Chromosome Location	chr18:11321647-11321648
allele	A/T
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	GATA3	chr18:11320699-11321651	SK-N-SH	brain:	n/a	chr18:11321326-11321336
2	NFIC	chr18:11320767-11321660	SK-N-SH	brain:	n/a	chr18:11321377-11321405
3	EP300	chr18:11320722-11321658	SK-N-SH	brain:	n/a	chr18:11320919-11320928

Variant related genes	Relation type
ENSG00000263682	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16976089	0.95[ASN][1000 genomes]
rs370233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs376865	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs394655	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs397147	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs405515	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs455369	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455662	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455675	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs456908	0.82[EUR][1000 genomes]
rs457112	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457234	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs457478	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457626	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs457630	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs458813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs459329	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs459799	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs460297	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs462136	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464224	0.82[EUR][1000 genomes]
rs464439	0.82[EUR][1000 genomes]
rs464979	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs465884	0.82[EUR][1000 genomes]
rs466179	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs466320	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs466890	0.82[EUR][1000 genomes]
rs467394	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4796920	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73402962	0.98[ASN][1000 genomes]
rs98452	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription 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 miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 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	chr18:11318800-11323400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:11320000-11322600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:11320200-11322200	Enhancers	HSMM	muscle
4	chr18:11320200-11322400	Enhancers	Dnd41	blood
5	chr18:11320200-11325600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr18:11320200-11328200	Enhancers	NHDF-Ad	bronchial
7	chr18:11320400-11321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:11320400-11321800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:11320400-11322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:11320400-11324800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:11320400-11325000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:11320400-11327000	Enhancers	NH-A	brain
13	chr18:11320600-11321800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:11320600-11321800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:11320600-11321800	Enhancers	NHLF	lung
16	chr18:11320600-11322000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:11320600-11322200	Enhancers	Primary hematopoietic stem cells	blood
18	chr18:11320800-11325000	Enhancers	Osteobl	bone
19	chr18:11321000-11321800	Enhancers	Fetal Thymus	thymus
20	chr18:11321000-11322800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:11321000-11327400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:11321200-11327000	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:11321400-11321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:11321400-11321800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:11321400-11323000	Weak transcription	HSMMtube	muscle
26	chr18:11321600-11321800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:11321600-11321800	Enhancers	Hela-S3	cervix
28	chr18:11321600-11325800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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