Variant report

Variant	rs560994553
Chromosome Location	chr4:110840584-110840585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
2	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:
3	chr4:110832543..110837844-chr4:110838197..110841134,5	K562	blood:

Variant related genes	Relation type
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1806286	chr4:110837287-110845707	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1811274	chr4:110837287-110845707	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1814770	chr4:110837287-110845707	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1810403	chr4:110840522-110845807	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1811374	chr4:110840522-110845807	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 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	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:110835200-110842200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:110836200-110841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:110836600-110842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110836800-110842400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:110836800-110842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:110837000-110842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110837200-110842000	Weak transcription	HSMMtube	muscle
11	chr4:110837400-110842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:110837600-110842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:110837800-110841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:110837800-110842200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:110838000-110840800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:110838000-110840800	Weak transcription	Fetal Intestine Small	intestine
18	chr4:110838000-110842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:110838400-110841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:110839200-110841000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:110840000-110842000	Weak transcription	Pancreas	Pancrea
22	chr4:110840200-110840800	Weak transcription	Psoas Muscle	Psoas
23	chr4:110840400-110840600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:110840400-110840600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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