Variant report

Variant	rs12303142
Chromosome Location	chr12:104476453-104476454
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	chr12:104475408..104478503-chr12:104481341..104484016,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11111902	0.90[EUR][1000 genomes]
rs11111903	0.90[EUR][1000 genomes]
rs12299254	0.81[AFR][1000 genomes]
rs12302307	0.81[AFR][1000 genomes]
rs12308134	0.90[EUR][1000 genomes]
rs12317222	0.90[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
4	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:104459800-104477400	Weak transcription	Gastric	stomach
10	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
11	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
12	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
18	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:104460000-104496800	Weak transcription	HepG2	liver
20	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
21	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
22	chr12:104460200-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:104460200-104476600	Weak transcription	NHEK	skin
24	chr12:104460600-104476600	Weak transcription	Brain Angular Gyrus	brain
25	chr12:104460600-104480600	Weak transcription	K562	blood
26	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:104461400-104476600	Weak transcription	Fetal Brain Male	brain
28	chr12:104461800-104476800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:104462000-104476600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:104462600-104476800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:104463000-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104463200-104476600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:104465200-104480000	Weak transcription	A549	lung
34	chr12:104465600-104477600	Weak transcription	GM12878-XiMat	blood
35	chr12:104466000-104480600	Weak transcription	Stomach Mucosa	stomach
36	chr12:104466200-104476800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:104466200-104480400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:104466800-104476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104467600-104476600	Weak transcription	Fetal Brain Female	brain
40	chr12:104468200-104476600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:104469600-104476600	Weak transcription	Lung	lung
42	chr12:104469600-104477400	Weak transcription	Ovary	ovary
43	chr12:104469600-104477800	Weak transcription	Psoas Muscle	Psoas
44	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:104471400-104477400	Strong transcription	NH-A	brain
47	chr12:104471400-104477800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:104471800-104477200	Strong transcription	NHDF-Ad	bronchial
50	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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