Variant report

Variant	rs12322294
Chromosome Location	chr12:45640485-45640486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45639399..45641571-chr12:45642912..45645848,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10437940	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10880758	0.91[YRI][hapmap]
rs11182937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12301846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302842	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311471	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
4	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:45629800-45651000	Weak transcription	K562	blood
7	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
10	chr12:45630000-45648600	Weak transcription	NHEK	skin
11	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:45630000-45651000	Weak transcription	HepG2	liver
13	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:45630400-45641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:45636200-45641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:45636200-45647400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
21	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:45636400-45643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
24	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
28	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:45637200-45640600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:45638400-45640600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:45638600-45640600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:45638800-45640600	Weak transcription	Lung	lung
34	chr12:45638800-45640600	Enhancers	NHLF	lung
35	chr12:45638800-45641000	Weak transcription	A549	lung
36	chr12:45638800-45643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:45639000-45640600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:45639000-45640600	Enhancers	Adipose Nuclei	Adipose
46	chr12:45639000-45640600	Enhancers	Liver	Liver
47	chr12:45639000-45642600	Weak transcription	Psoas Muscle	Psoas
48	chr12:45639000-45642600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:45639000-45642600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:45639000-45643600	Weak transcription	Rectal Smooth Muscle	rectum

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