Variant report

Variant	rs554033724
Chromosome Location	chr4:48254204-48254205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48251827..48254565-chr4:48270153..48272053,2	K562	blood:
2	chr4:48253065..48255231-chr4:48264308..48266240,2	K562	blood:
3	chr4:48231874..48234490-chr4:48252410..48255133,2	K562	blood:
4	chr4:48253624..48256243-chr4:48267800..48270613,3	MCF-7	breast:
5	chr4:48250701..48254731-chr4:48255352..48259390,5	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
11	nsv4329	chr4:48254113-48262973	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	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	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48249600-48261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:48249800-48255800	Weak transcription	NHDF-Ad	bronchial
5	chr4:48250200-48254600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:48250400-48254400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:48250600-48255800	Weak transcription	Left Ventricle	heart
8	chr4:48250600-48259400	Weak transcription	Small Intestine	intestine
9	chr4:48251000-48256000	Weak transcription	Liver	Liver
10	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
12	chr4:48252600-48255200	Weak transcription	Fetal Lung	lung
13	chr4:48252600-48258200	Enhancers	Fetal Heart	heart
14	chr4:48253000-48263000	Weak transcription	Primary B cells from cord blood	blood
15	chr4:48253200-48257400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:48253400-48254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:48253400-48255000	Enhancers	K562	blood
18	chr4:48254000-48254600	Enhancers	GM12878-XiMat	blood
19	chr4:48254000-48254800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:48254200-48254400	Enhancers	Brain Germinal Matrix	brain
21	chr4:48254200-48255200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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