Variant report

Variant	rs534627751
Chromosome Location	chr4:48205523-48205524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48204159..48206959-chr4:48343162..48344804,3	K562	blood:
2	chr4:48203930..48205918-chr4:48223677..48225744,2	K562	blood:
3	chr4:48204459..48206911-chr4:48210318..48213685,3	K562	blood:
4	chr4:48199323..48202790-chr4:48204123..48207429,4	K562	blood:
5	chr4:48204514..48206447-chr4:48263037..48265705,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	esv275189	chr4:48204287-48205942	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:48196200-48207200	Weak transcription	Lung	lung
5	chr4:48198200-48207200	Weak transcription	Pancreas	Pancrea
6	chr4:48200200-48212400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:48200400-48205800	Weak transcription	Right Ventricle	heart
8	chr4:48202200-48210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48203800-48212600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:48204000-48206000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:48204000-48206800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48204000-48206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:48204600-48212600	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:48204800-48206400	Enhancers	Primary B cells from cord blood	blood
16	chr4:48204800-48206600	Enhancers	Fetal Thymus	thymus
17	chr4:48205200-48205600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:48205200-48205600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:48205400-48205600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:48205400-48205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:48205400-48206000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:48205400-48206200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:48205400-48206600	Flanking Active TSS	K562	blood
24	chr4:48205400-48207000	Enhancers	Left Ventricle	heart
25	chr4:48205400-48207400	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:48205400-48207800	Enhancers	Fetal Heart	heart

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