Variant report

Variant	rs4316552
Chromosome Location	chr12:63260032-63260033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63251270..63253184-chr12:63258915..63261643,2	MCF-7	breast:
2	chr12:63257305..63259336-chr12:63259485..63261884,2	K562	blood:
3	chr12:63258946..63261199-chr12:63326953..63329454,2	MCF-7	breast:
4	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction

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

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

rs_ID	r²[population]
rs1077402	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1081649	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs11174701	0.80[AMR][1000 genomes]
rs2839798	0.85[CEU][hapmap];0.88[AMR][1000 genomes]
rs669622	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs680831	0.88[EUR][1000 genomes]
rs7312496	0.88[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63239400-63260200	Weak transcription	Fetal Intestine Small	intestine
2	chr12:63242400-63260200	Weak transcription	Fetal Heart	heart
3	chr12:63253000-63262000	Enhancers	Osteobl	bone
4	chr12:63254400-63262000	Enhancers	HSMM	muscle
5	chr12:63255000-63262400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr12:63255200-63260800	Enhancers	Brain Angular Gyrus	brain
7	chr12:63255600-63260400	Weak transcription	Psoas Muscle	Psoas
8	chr12:63255600-63260600	Enhancers	Brain Anterior Caudate	brain
9	chr12:63255600-63261200	Enhancers	Brain Hippocampus Middle	brain
10	chr12:63256000-63262000	Weak transcription	Ovary	ovary
11	chr12:63256400-63262200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:63257000-63260400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:63257000-63260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:63257400-63260200	Weak transcription	NHEK	skin
15	chr12:63257400-63260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:63257600-63260600	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:63257800-63262600	Enhancers	Brain Substantia Nigra	brain
18	chr12:63258000-63261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:63258400-63262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:63258600-63261400	Enhancers	HSMMtube	muscle
22	chr12:63258600-63262200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:63258800-63260600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:63258800-63260800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:63258800-63261000	Enhancers	Right Atrium	heart
26	chr12:63258800-63262000	Enhancers	NHLF	lung
27	chr12:63258800-63264400	Enhancers	HepG2	liver
28	chr12:63259000-63260400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:63259000-63260400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:63259000-63260600	Enhancers	Aorta	Aorta
31	chr12:63259000-63260800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:63259000-63261000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr12:63259000-63261000	Enhancers	Left Ventricle	heart
34	chr12:63259000-63261200	Enhancers	NHDF-Ad	bronchial
35	chr12:63259000-63262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:63259200-63260800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:63259400-63260600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:63259400-63260600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:63259600-63260400	Enhancers	NH-A	brain
40	chr12:63259600-63260600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:63259600-63260600	Enhancers	Fetal Kidney	kidney
42	chr12:63259600-63260800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:63259600-63261000	Enhancers	Small Intestine	intestine
44	chr12:63259600-63261200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:63259600-63261200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:63259600-63261200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:63259600-63261400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:63259800-63260400	Enhancers	Hela-S3	cervix
49	chr12:63259800-63260600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:63259800-63260600	Enhancers	Lung	lung

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