Variant report

Variant	rs4359251
Chromosome Location	chr12:56226578-56226579
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11171678	1.00[CEU][hapmap]
rs17844794	1.00[CEU][hapmap]
rs2071024	1.00[CEU][hapmap]
rs3138143	1.00[CHD][hapmap]
rs55887039	1.00[AFR][1000 genomes]
rs7956337	1.00[CHD][hapmap]

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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56224800-56227200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:56224800-56227400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56225200-56226600	Enhancers	Spleen	Spleen
4	chr12:56225200-56226800	Weak transcription	Gastric	stomach
5	chr12:56225200-56227400	Enhancers	Stomach Mucosa	stomach
6	chr12:56225200-56232000	Weak transcription	Aorta	Aorta
7	chr12:56225400-56227400	Enhancers	Lung	lung
8	chr12:56225400-56230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:56225400-56236000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:56225400-56236000	Weak transcription	NHEK	skin
11	chr12:56225400-56236600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:56225400-56237000	Weak transcription	GM12878-XiMat	blood
13	chr12:56225600-56226600	Enhancers	Colon Smooth Muscle	Colon
14	chr12:56225600-56226600	Weak transcription	Right Ventricle	heart
15	chr12:56225600-56226800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:56225600-56226800	Enhancers	Brain Cingulate Gyrus	brain
17	chr12:56225600-56226800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:56225600-56227000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:56225600-56227400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:56225600-56229400	Weak transcription	Primary B cells from cord blood	blood
21	chr12:56225600-56229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:56225600-56230000	Weak transcription	Osteobl	bone
23	chr12:56225600-56235200	Weak transcription	NHDF-Ad	bronchial
24	chr12:56225600-56235400	Weak transcription	HSMMtube	muscle
25	chr12:56225600-56235800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:56225600-56236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:56225600-56236000	Weak transcription	NH-A	brain
28	chr12:56225800-56226600	Enhancers	Brain Germinal Matrix	brain
29	chr12:56225800-56226800	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:56225800-56227000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:56225800-56227200	Genic enhancers	Fetal Stomach	stomach
32	chr12:56225800-56227400	Enhancers	Fetal Brain Male	brain
33	chr12:56225800-56227400	Genic enhancers	Fetal Muscle Leg	muscle
34	chr12:56225800-56227400	Enhancers	Fetal Thymus	thymus
35	chr12:56225800-56236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:56225800-56244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:56226000-56226600	Enhancers	Esophagus	oesophagus
38	chr12:56226000-56227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:56226000-56227400	Enhancers	Fetal Brain Female	brain
40	chr12:56226000-56228400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:56226000-56228400	Weak transcription	Primary T cells from cord blood	blood
42	chr12:56226000-56228400	Weak transcription	Thymus	Thymus
43	chr12:56226000-56230400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:56226000-56230400	Weak transcription	HSMM	muscle
45	chr12:56226000-56235600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:56226000-56236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:56226200-56226800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:56226200-56226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:56226200-56226800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:56226200-56226800	Enhancers	Adipose Nuclei	Adipose

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