Variant report

Variant	rs539381064
Chromosome Location	chr6:12962857-12962858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12958200-12963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:12958600-12963200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:12958800-12963200	Weak transcription	NHLF	lung
4	chr6:12959000-12963000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:12959000-12963000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:12959000-12963000	Weak transcription	Fetal Stomach	stomach
7	chr6:12959000-12963000	Weak transcription	HSMMtube	muscle
8	chr6:12959000-12963000	Weak transcription	NH-A	brain
9	chr6:12959000-12963000	Weak transcription	NHDF-Ad	bronchial
10	chr6:12959200-12963000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:12959200-12963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:12959200-12964000	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:12959200-12968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:12960600-12963800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:12961000-12963400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:12961000-12968400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:12961800-12963400	Enhancers	Left Ventricle	heart
18	chr6:12962000-12963200	Enhancers	Right Ventricle	heart
19	chr6:12962000-12963400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:12962000-12964000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:12962000-12964400	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:12962200-12963600	Enhancers	Spleen	Spleen
23	chr6:12962200-12964000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:12962200-12964200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:12962400-12963200	Enhancers	Brain Hippocampus Middle	brain
26	chr6:12962400-12963400	Enhancers	Brain Anterior Caudate	brain
27	chr6:12962400-12963600	Flanking Active TSS	Fetal Heart	heart
28	chr6:12962400-12963600	Enhancers	Pancreas	Pancrea
29	chr6:12962400-12963600	Enhancers	HSMM	muscle
30	chr6:12962400-12964000	Enhancers	Adipose Nuclei	Adipose
31	chr6:12962400-12966200	Weak transcription	Lung	lung
32	chr6:12962600-12963400	Weak transcription	Aorta	Aorta
33	chr6:12962600-12964000	Flanking Active TSS	HUVEC	blood vessel
34	chr6:12962800-12963000	Enhancers	Fetal Muscle Leg	muscle
35	chr6:12962800-12963000	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:12962800-12963200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:12962800-12963200	Weak transcription	Right Atrium	heart
38	chr6:12962800-12963600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:12962800-12963600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:12962800-12963600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:12962800-12963600	Enhancers	NHEK	skin
42	chr6:12962800-12963800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr6:12962800-12964200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr6:12962800-12964200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:12962800-12968000	Weak transcription	Brain Angular Gyrus	brain

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