Variant report

Variant	rs574085359
Chromosome Location	chr2:57987953-57987954
allele	A/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	IKZF1	chr2:57987410-57987953	GM12878	blood:	n/a	n/a
2	CTCF	chr2:57987840-57987990	GM12871	blood:	n/a	n/a
3	MXI1	chr2:57987015-57987965	GM12878	blood:	n/a	n/a
4	RAD21	chr2:57986938-57987968	GM12878	blood:	n/a	chr2:57987139-57987153 chr2:57987143-57987155 chr2:57987101-57987113 chr2:57987140-57987147 chr2:57987138-57987157
5	EP300	chr2:57987628-57987974	GM12878	blood:	n/a	chr2:57987675-57987684
6	CTCF	chr2:57986623-57988126	A549	lung:	n/a	chr2:57987139-57987160 chr2:57987138-57987154 chr2:57987137-57987155 chr2:57987142-57987150
7	NFIC	chr2:57986921-57988035	GM12878	blood:	n/a	n/a
8	SMC3	chr2:57986732-57988020	GM12878	blood:	n/a	chr2:57987139-57987153
9	FOXM1	chr2:57987652-57987971	GM12878	blood:	n/a	n/a
10	CTCF	chr2:57987840-57987990	GM06990	blood:	n/a	n/a
11	RUNX3	chr2:57986990-57988002	GM12878	blood:	n/a	n/a
12	CTCF	chr2:57987741-57988019	GM12878	blood:	n/a	n/a
13	RUNX3	chr2:57986993-57988058	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000271615	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874197	chr2:57978858-58068741	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874198	chr2:57987593-58068741	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57985400-57988400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:57986400-57988000	Active TSS	Brain Angular Gyrus	brain
3	chr2:57986600-57988000	Active TSS	Brain Cingulate Gyrus	brain
4	chr2:57986600-57988000	Enhancers	Fetal Lung	lung
5	chr2:57987400-58009800	Weak transcription	Pancreas	Pancrea
6	chr2:57987600-57988000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr2:57987600-57988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:57987600-57988000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:57987600-57988200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:57987600-57988200	Enhancers	A549	lung
11	chr2:57987600-57989200	Weak transcription	K562	blood
12	chr2:57987800-57988000	Enhancers	Fetal Brain Male	brain
13	chr2:57987800-57988200	Enhancers	GM12878-XiMat	blood
14	chr2:57987800-57988400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:57987800-57988400	Enhancers	Brain Germinal Matrix	brain
16	chr2:57987800-57988400	Enhancers	Fetal Brain Female	brain
17	chr2:57987800-57988800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:57987800-57989000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:57987800-57989200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:57987800-57989400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:57987800-57994600	Weak transcription	Thymus	Thymus

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