Variant report

Variant	rs11932554
Chromosome Location	chr4:141892454-141892455
allele	G/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	GATA2	chr4:141892174-141893109	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr4:141891691-141893314	SK-N-SH	brain:	n/a	chr4:141892640-141892648
3	GATA3	chr4:141892135-141892829	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:141888929..141891016-chr4:141891201..141893150,2	K562	blood:

Variant related genes	Relation type
RNF150	TF binding region
ENSG00000170153	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1003257	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12019258	0.92[EUR][1000 genomes]
rs13129199	0.88[EUR][1000 genomes]
rs1364881	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425445	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17340802	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17425151	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895762	0.89[EUR][1000 genomes]
rs1899424	0.85[ASN][1000 genomes]
rs3851424	0.88[EUR][1000 genomes]
rs3851425	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4245936	0.85[ASN][1000 genomes]
rs56288735	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59074378	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60293572	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62325721	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325722	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325723	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326020	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326022	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62326024	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6537024	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823670	0.88[EUR][1000 genomes]
rs73849462	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73849490	0.85[ASN][1000 genomes]
rs7665647	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9994743	0.96[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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr4:141876800-141905600	Weak transcription	Fetal Kidney	kidney
2	chr4:141877000-141892600	Weak transcription	Adipose Nuclei	Adipose
3	chr4:141877600-141905800	Weak transcription	Fetal Lung	lung
4	chr4:141877800-141913600	Weak transcription	Right Ventricle	heart
5	chr4:141881000-141900800	Weak transcription	Left Ventricle	heart
6	chr4:141886600-141892600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:141888200-141913400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:141888400-141897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:141889400-141903400	Weak transcription	Ovary	ovary
10	chr4:141889600-141892800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:141891000-141892800	Enhancers	Psoas Muscle	Psoas
12	chr4:141891600-141892800	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:141891800-141892800	Enhancers	Colon Smooth Muscle	Colon
14	chr4:141891800-141893000	Enhancers	Stomach Smooth Muscle	stomach
15	chr4:141891800-141894000	Enhancers	Fetal Heart	heart
16	chr4:141892000-141892600	Enhancers	Fetal Brain Male	brain
17	chr4:141892000-141892800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:141892000-141894000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:141892200-141892600	Enhancers	Fetal Muscle Leg	muscle
20	chr4:141892400-141892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:141892400-141892800	Enhancers	Fetal Stomach	stomach
22	chr4:141892400-141893000	Enhancers	Duodenum Smooth Muscle	Duodenum

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