Variant report

Variant	rs556880945
Chromosome Location	chr4:48249200-48249201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48248411..48250691-chr4:48255149..48257827,3	K562	blood:
2	chr4:48248891..48252665-chr4:48270333..48273467,3	MCF-7	breast:
3	chr4:48248192..48249902-chr4:48342443..48344604,2	K562	blood:
4	chr4:48247444..48251511-chr4:48269586..48272868,4	K562	blood:
5	chr4:48238892..48241068-chr4:48247777..48249287,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction
ENSG00000109171	Chromatin interaction

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48242600-48252600	Weak transcription	Aorta	Aorta
2	chr4:48245600-48249200	ZNF genes & repeats	GM12878-XiMat	blood
3	chr4:48245800-48250200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:48246400-48249600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:48246600-48249200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:48247000-48249200	Weak transcription	K562	blood
7	chr4:48248800-48249400	Active TSS	Primary hematopoietic stem cells	blood
8	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:48249000-48249400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:48249000-48249600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr4:48249000-48249600	Enhancers	Primary B cells from cord blood	blood
13	chr4:48249000-48249800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:48249000-48250600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:48249000-48250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:48249200-48249400	Active TSS	GM12878-XiMat	blood
17	chr4:48249200-48249600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:48249200-48249600	Flanking Active TSS	K562	blood
19	chr4:48249200-48249600	Enhancers	NHLF	lung
20	chr4:48249200-48249800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:48249200-48249800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:48249200-48249800	Enhancers	NHDF-Ad	bronchial
23	chr4:48249200-48250400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:48249200-48250400	Enhancers	Fetal Heart	heart

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