Variant report

Variant	rs532205756
Chromosome Location	chr12:4553375-4553376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4550824..4553664-chr12:4554520..4557456,3	K562	blood:

Variant related genes	Relation type
ENSG00000111241	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33276	chr12:4553216-4554993	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island 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	chr12:4548400-4553400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:4548400-4553600	Enhancers	Fetal Thymus	thymus
3	chr12:4548600-4554800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4549600-4558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:4550000-4553800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
7	chr12:4551200-4554200	Weak transcription	Psoas Muscle	Psoas
8	chr12:4551600-4553400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:4551600-4553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr12:4551600-4556400	Weak transcription	Fetal Brain Male	brain
11	chr12:4551800-4553400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:4551800-4554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:4551800-4556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:4551800-4559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:4552000-4553800	Enhancers	Dnd41	blood
16	chr12:4552000-4558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:4552600-4554800	Active TSS	Fetal Muscle Leg	muscle
18	chr12:4552800-4553600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:4553000-4553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:4553000-4553600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:4553000-4554400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr12:4553200-4553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:4553200-4553400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:4553200-4553800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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