Variant report

Variant	rs547205257
Chromosome Location	chr12:42982491-42982492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42975394..42979509-chr12:42980340..42982880,4	K562	blood:
2	chr12:42982454..42982981-chr12:43675696..43676627,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3361465	chr12:42982310-42984858	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
3	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
6	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
7	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:42981200-42985000	Active TSS	Right Atrium	heart
12	chr12:42981400-42982600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:42981400-42982600	Flanking Active TSS	NHEK	skin
14	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
17	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
18	chr12:42981600-42982800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:42981600-42982800	Active TSS	Fetal Muscle Trunk	muscle
20	chr12:42981600-42982800	Active TSS	Fetal Stomach	stomach
21	chr12:42981600-42983000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:42981600-42983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:42981600-42983200	Active TSS	Fetal Heart	heart
24	chr12:42981600-42983200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:42981600-42984200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:42981600-42984400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
28	chr12:42981800-42982600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:42981800-42982600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
30	chr12:42981800-42982800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:42981800-42982800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr12:42981800-42983200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr12:42981800-42984600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:42981800-42984800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr12:42982000-42982800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
38	chr12:42982000-42982800	Active TSS	Placenta	Placenta
39	chr12:42982000-42982800	Bivalent/Poised TSS	NHLF	lung
40	chr12:42982000-42983000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
41	chr12:42982000-42983400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:42982000-42984000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:42982000-42984000	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr12:42982000-42984000	Active TSS	HSMM	muscle
45	chr12:42982000-42984000	Active TSS	HUVEC	blood vessel
46	chr12:42982000-42984000	Active TSS	NH-A	brain
47	chr12:42982000-42984800	Active TSS	Aorta	Aorta
48	chr12:42982000-42984800	Active TSS	Left Ventricle	heart
49	chr12:42982000-42984800	Active TSS	Ovary	ovary
50	chr12:42982000-42985000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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