Variant report

Variant	rs575912297
Chromosome Location	chr12:4689405-4689406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4671214..4672797-chr12:4688856..4690993,2	K562	blood:
2	chr12:4688558..4689492-chr12:4866939..4867957,4	MCF-7	breast:
3	chr12:4671177..4672797-chr12:4687364..4690356,2	K562	blood:

Variant related genes	Relation type
ENSG00000010219	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	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
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv522586	chr12:4688634-4691682	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv526830	chr12:4689013-4691682	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 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	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:4687800-4690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:4687800-4690600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:4688400-4689600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:4688400-4689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:4688600-4689800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:4688600-4690200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:4688600-4690200	Enhancers	HUVEC	blood vessel
10	chr12:4688600-4690400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:4688600-4691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:4689000-4689600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:4689000-4690400	Enhancers	Spleen	Spleen
14	chr12:4689000-4691000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:4689200-4689800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:4689200-4689800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr12:4689200-4690400	Enhancers	Placenta	Placenta
18	chr12:4689200-4691000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:4689400-4689600	Enhancers	Liver	Liver
20	chr12:4689400-4690600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:4689400-4698800	Weak transcription	Primary B cells from peripheral blood	blood

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