Variant report

Variant	rs12810864
Chromosome Location	chr12:123235092-123235093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123120054..123123996-chr12:123234682..123237075,4	MCF-7	breast:
2	chr12:123212708..123217136-chr12:123232023..123237517,8	MCF-7	breast:
3	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:
4	chr12:123209450..123212113-chr12:123234197..123236734,3	MCF-7	breast:
5	chr12:123213766..123215849-chr12:123233024..123235349,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270134	Chromatin interaction
ENSG00000196917	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34623699	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12810864	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123228800-123236800	Weak transcription	Right Atrium	heart
2	chr12:123229200-123236000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:123232400-123235200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:123232400-123235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:123232400-123236400	Weak transcription	Esophagus	oesophagus
6	chr12:123232600-123235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:123232600-123236600	Weak transcription	HMEC	breast
8	chr12:123232800-123235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:123232800-123236600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123233200-123235400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:123233200-123235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:123233200-123235800	Weak transcription	NHEK	skin
13	chr12:123233200-123236600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:123233800-123236800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:123234000-123235200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:123234000-123235400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:123234200-123236800	Enhancers	HepG2	liver
18	chr12:123234200-123236800	Enhancers	K562	blood
19	chr12:123234400-123235400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:123234600-123235200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:123234600-123235200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:123234600-123235200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:123234600-123235800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:123234600-123238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:123234800-123235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:123234800-123236400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:123234800-123236400	Weak transcription	A549	lung
28	chr12:123235000-123235200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:123235000-123235200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:123235000-123236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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